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Bird TD | 25/04/2024Initial Posting: September 28, 1998; Last Revision: April 25, 2024. The purpose of this overview is to increase the awareness of clinicians regarding Charcot-Marie-Tooth (CMT) hereditary neuropathy, its causes, and its management. The followi[...]Article
Abrams CK | 25/04/2024Initial Posting: June 18, 1998; Last Revision: April 25, 2024. Clinical characteristics : GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limite[...]Article
Bird TD | 21/03/2024Initial Posting: September 17, 1999; Last Revision: March 21, 2024. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, an[...]Article
Moller B ; Coppolla A ; Jungbluth H ; Dafsari HS | Seattle (WA) : University of Washington, Seattle | 14/03/2024CLINICAL CHARACTERISTICS: DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to pheno[...]Article
Thada PK ; Bhandari J ; Umapathi KK | 30/01/2024Last Update: January 30, 2024 [Previous update: May 29, 2023]Article
Initial Posting: August 31, 2007; Last Revision: November 2, 2023. Clinical characteristics. Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; indiv[...]Article
Leslie ND ; Saenz-Ayala S | 13/07/2023In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 Initial Posting: May 28, 2009; Last Revision: July 13, 2023 (Previous Update: June 16, 2022) CLINICAL CHARACT[...]Publication AFM
Myoinfo, Auteur ; Lorain S, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2023Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare genetic diseases which affect skeletal and cardiac muscle. They primarily occur in males but can also occasionally affect females. DMD manifests as progressive muscl[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Geille A, Validateur ; Loux N, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La dystrophie myotonique de type 2 ou PROMM (pour proximal myotonic myopathy) est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie), mais pe[...]Publication AFM
Myoinfo, Auteur ; Urtizberea JA, Validateur ; Lorain S, Validateur ; Bordes M, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023Les myopathies ou dystrophies musculaires des ceintures (LGMD pour Limb Girdle Muscular Dystrophy) constituent un groupe hétérogène de maladies musculaires rares d’origine génétique. Elles se manifestent par un déficit et une atrophie des muscle[...]Publication AFM
Les dystrophies musculaires de Duchenne (DMD) et de Becker (DMB) sont des maladies génétiques rares qui touchent l’ensemble des muscles squelettiques et le muscle cardiaque. Elles concernent majoritairement des hommes et, dans de très rares cas,[...]Publication AFM
Myoinfo, Auteur ; Attarian S, Validateur ; Hoyau A, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La maladie de Charcot-Marie-Tooth (CMT) représente un groupe de maladies cliniquement et génétiquement hétérogènes, caractérisées par une atteinte des nerfs périphériques des membres supérieurs et inférieurs (les médecins parlent de neuropathies[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Gourdon G, Validateur ; Loux N, Validateur ; Sayah S, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La maladie de Steinert ou dystrophie myotonique de type 1 est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie). Elle touche aussi d'autres [...]Publication AFM
Myoinfo, Auteur ; Le Panse R, Validateur ; André C, Validateur ; Archer A, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2023La myasthénie auto-immune est une maladie rare qui se manifeste par une fatigabilité et une faiblesse musculaire fluctuante, d’intensité et de durée variables, pouvant toucher n’importe quel muscle volontaire. Elle s’accompagne fréquemment d’ano[...]Article
Last Update: May 29, 2023 ( Published : June 24, 2020, Previous update : May 9, 2022)Article
Last Update: May 29, 2023 [Previous update: May 8, 2022]Article
Last Update: May 25, 2023. [Previous version: August 10, 2020]Article
De Ridder W ; de Vries G ; Van Schil K ; Deconinck T ; Mouly V ; Straub V ; Baets J | England | 07/04/2023Article
Alves CAPF ; Zandifar A ; Peterson JT ; Tara SZ ; Ganetzky R ; Viaene AN ; Andronikou S ; Falk MJ ; Vossough A ; Goldstein AC | United States | 06/04/2023Article
Llansó L ; Moore U ; Bolano-Diaz C ; James M ; Blamire AM ; Carlier PG ; Rufibach L ; Gordish-Dressman H ; Boyle G ; Hilsden H ; Day JW ; Jones KJ ; Bharucha-Goebel DX ; Salort-Campana E ; Pestronk A ; Walter MC ; Paradas C ; Stojkovic T ; Mori-Yoshimura M ; Bravver E ; Pegoraro E ; Mendell JR ; Straub V ; Diaz-Manera J | England | 04/2023Article
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Brignol TN, Auteur ; Urtizberea JA, Auteur ; Rivière H | AFM-TELETHON | Fiche Technique Médico-Scientifique Savoir & Comprendre | 03/2023Après un bref rappel de la structure de l’unité motrice et des différents modes de transmission génétique, ce document présente une description succincte des principales maladies neuromusculaires et de leur prise en charge. Pour chaque groupe [...]Article
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Kediha MI ; Tazir M ; Magnouche C ; Sternberg D ; Belarbi S ; Eymard B ; Ali Pacha L | France | 08/02/2023Article
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Faraguna MC ; Crescitelli V ; Fornari A ; Barzaghi S ; Savasta S ; Foiadelli T ; Veraldi D ; Paoletti M ; Pichiecchio A ; Gasperini S | Switzerland | 01/2023Article
La Spada A | 15/12/2022Initial Posting: February 26, 1999; Last Update: December 15, 2022. Clinical characteristics. Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in[...]Article
Angelini C | 01/12/2022Initial Posting: May 10, 2005; Last Update: December 1, 2022. Clinical characteristics. Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tend[...]Article
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Weihl CC ; Topf A ; Bengoechea R ; Duff J ; Charlton R ; Garcia SK ; Dominguez-Gonzalez C ; AlSaman A ; Hernandez Lain A ; Franco LV ; Sanchez MEP ; Beecroft SJ ; Goullee H ; Daw J ; Bhadra A ; True H ; Inoue M ; Findlay AR ; Laing N ; Olive M ; Ravenscroft G ; Straub V | Germany | 20/10/2022Article
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Ahmad I ; Khan A ; Noor Ul Ayan H ; Budde B ; Altmuller J ; Korejo AA ; Nurnberg G ; Thiele H ; Tariq M ; Nurnberg P ; Erdmann J | England | 11/10/2022Article
Last Update: October 10, 2022 [Previous update: July 12, 2021; February 15, 2021]Article
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Bevilacqua JA ; Contreras JP ; Trangulao A ; Hernández Ú ; Brochier G ; Diaz J ; Hughes R ; Campero M ; Romero NB | England | 08/2022Article
Jain A ; Al Khalili Y | 21/07/2022Last Update: July 21, 2022 (Previous versions : July 10, 2021 - December 15, 2020)Article
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Last Update: July 18, 2022 (previous version : November 20, 2020)Article
Publication AFM
Myoinfo, Auteur ; Urtizberea JA, Validateur ; Lorain S, Validateur ; Bordes M, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022Les myopathies ou dystrophies musculaires des ceintures (LGMD pour Limb Girdle Muscular Dystrophy) constituent un groupe hétérogène de maladies musculaires rares d’origine génétique. Elles se manifestent par un déficit et une atrophie des muscle[...]Publication AFM
Myoinfo, Auteur ; Attarian S, Validateur ; Vallat JM, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022La maladie de Charcot-Marie-Tooth (CMT) représente un groupe de maladies cliniquement et génétiquement hétérogènes, caractérisées par une atteinte des nerfs périphériques des membres supérieurs et inférieurs. Cette atteinte entraîne principalem[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Geille A, Validateur ; Loux N, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2022La maladie de Steinert ou dystrophie myotonique de type 1 est une maladie rare, d’origine génétique. Elle affecte les muscles, qui s'affaiblissent (dystrophie) et ont du mal à se relâcher après contraction (myotonie). Elle touche aussi d'autres [...]Article
Last Update: May 8, 2022. (previous version July 6, 2021)Article
Last Update: May 8, 2022 (Previous update : October 10, 2021)Article
Last Update: May 15, 2022 . (previous version July 4, 2021)Article
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Pfeffer G ; Chinnery PF | 14/04/2022Initial Posting: February 27, 2014; Last Update: April 14, 2022. Clinical characteristics. Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of l[...]Article
Hershberger RE ; Jordan E | 07/04/2022Initial Posting: July 27, 2007; Last Update: April 7, 2022. The purpose of this overview is to increase clinician awareness of the genetic basis of dilated cardiomyopathy (DCM) and the benefits of early diagnosis and management to individuals[...]Article
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Initial Posting: September 5, 2000; Last Revision: January 20, 2022. Clinical characteristics. The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker[...]Article
Last Update: January 9, 2022 (previous version August 14, 2021; August 15, 2020)Article
Crefcoeur LL ; Visser G ; Ferdinandusse S ; Wijburg FA ; Langeveld M ; Sjouke B | United States | 08/01/2022Article
Schreuder AB ; Rossi A ; Grünert SC ; Derks TGJ | 06/01/2022Initial Posting: March 9, 2010; Last Update: January 6, 2022. Clinical characteristics. Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most c[...]Article
Abicht A ; Müller J ; Lochmuller H | 23/12/2021Initial Posting: May 9, 2003; Last Update: December 23, 2021. The purpose of this overview is to increase the awareness of clinicians regarding congenital myasthenic syndromes (CMS) and their genetic causes and management. The following ar[...]Article
Comi GP ; Niks EH ; Cinnante CM ; Kan HE ; Vandenborne K ; Willcocks RJ ; Velardo D ; Ripolone M ; van Benthem JJ ; van de Velde NM ; Nava S ; Ambrosoli L ; Cazzaniga S ; Bettica PU | United States | 16/12/2021Article
Opal P | 14/10/2021Initial Posting: January 9, 2003; Last Update: October 14, 2021. Clinical characteristics. GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure[...]Article
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Thebault S ; Gibbs E ; Bourque P ; McKim D ; Rakhra K ; Breiner A ; Frykman H ; Warman-Chardon J | England | 06/09/2021Article
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Juntas Morales R ; Perrin A ; Sole G ; Lacourt D ; Pegeot H ; Walther Louvier U ; Cintas P ; Cances C ; Espil C ; Theze C ; Zenagui R ; Yauy K ; Cosset E ; Renard D ; Rigau V ; Maues de Paula A ; Uro-Coste E ; Arne-Bes MC ; Martin Negrier ML ; Leboucq N ; Acket B ; Malfatti E ; Biancalana V ; Metay C ; Richard P ; Rendu J ; Rivier F ; Koenig M ; Cossee M | 31/07/2021Article
Initial Posting: June 8, 2000; Last Update: July 29, 2021.Article
Baumbach-Reardon L ; Hunter JM ; Ahearn ME ; Pfautsch M | 29/07/2021Initial Posting: October 30, 2008; Last Update: July 29, 2021.Article
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Jayarangaiah A ; Theetha Kariyanna P | 15/07/2021Last Update: July 15, 2021. (previous version July 15, 2020)Article
Last Update: July 14, 2021. (previous version November 19, 2020)Article
Last Update: July 8, 2021. (previous version July 8, 2021)Article
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Last Update: July 7, 2021. [Previous update: February 13, 2021]Article
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Weber F | 01/07/2021Initial Posting: July 18, 2003; Last Update: July 1, 2021. Clinical characteristics. Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes[...]Article
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Aoki M ; Takahashi T | 27/05/2021Initial Posting: February 5, 2004; Last Update: May 27, 2021. Clinical characteristics. Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular [...]Article
Last Update: May 7, 2021 (previous version June 3, 2020)Article
Casal-Dominguez M ; Pinal Fernandez I ; Derfoul A ; Graf R ; Michelle H ; Albayda J ; Tiniakou E ; Adler B ; Danoff SK ; Lloyd TE ; Christoper-Stine L ; Paik JJ ; Mammen AL | United States | 28/04/2021Article
Initial Posting: June 11, 2015; Last Update: April 8, 2021 Clinical description. Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neu[...]Article
Foley AR ; Mohassel P ; Donkervoort S ; Bolduc V ; Bonnemann CG | 11/03/2021Initial Posting: June 25, 2004; Last Update: March 11, 2021. Clinical characteristics. Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, U[...]Article
Azzedine H ; Salih MA | 11/03/2021Initial Posting: March 31, 2008; Last Update: March 11, 2021. Clinical characteristics. SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis[...]Article
Initial Posting: August 3, 2005; Last Update: February 25, 2021. Clinical characteristics. Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, faci[...]Article
Velez-Bartolomei F ; Lee C ; Enns G | 07/01/2021Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized[...]Article
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Prior TW ; Leach ME ; Finanger E | 3/12/2020Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of t[...]Article
Les calpaïnopathies sont des dystrophies musculaires des ceintures héréditaires, le plus souvent avec une transmission autosomique récessive (AR). Des formes autosomiques dominantes (AD) de présentation moins sévère sont de plus en plus rapporté[...]Article
Villar Quiles RN ; Richard I ; Bouchet-Seraphin C ; Stojkovic T | AFM-TELETHON | Les cahiers de myologie | 12/2020Les mutations du gène FKRP codant la fukutin-related protein (FKRP) sont à l’origine d’un large éventail de myopathies allant de formes sévères de dystrophies musculaires congénitales associées à des anomalies structurales du système nerveux cen[...]Article
Fernandez-Eulate G, Auteur ; Leturcq F ; Laforet P ; Richard I ; Stojkovic T | AFM-TELETHON | Les cahiers de myologie | 12/2020Les sarcoglycanopathies font partie des dystrophies musculaires des ceintures (LGMD) autosomiques récessives et représentent la troisième cause la plus fréquente d’entre elles. Elles sont consécutives à un déficit d’un des sarcoglycanes α, β, γ,[...]Article
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Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler Browne G ; Evangelista T ; Lacau St Guily J ; Richard P | 22/10/2020Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and phar[...]Article
McCray BA ; Schindler A ; Hoover-Fong JE ; Sumner CJ | 17/09/2020Initial Posting: May 15, 2014; Last Update: September 17, 2020. Clinical characteristics. The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are n[...]Article
Initial Posting: April 2, 2009; Last Update: September 17, 2020. Clinical characteristics. Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bl[...]Article
Oliveira J ; Parente Freixo J ; Santos M ; Coelho T | 17/09/2020Initial Posting: June 7, 2012; Last Update: September 17, 2020. Clinical characteristics. The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy t[...]Article
Chrestian N | 27/08/2020Initial Posting: September 28, 1998; Last Update: August 27, 2020. Clinical characteristics. Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or mu[...]Article
Update : 2020 August. (Last Update: March 19, 2023)Article
Dermatomyositis is a rare acquired immune-mediated muscle disease characterized by muscle weakness and skin rash. It is classified as one of the idiopathic inflammatory myopathies (IIM). Although all idiopathic inflammatory myopathies share the [...]Publication AFM
Myoinfo, Auteur ; Devaux C, Validateur ; Dupitier E, Validateur ; Eng C, Validateur ; Lagrue E, Validateur ; Leturcq F, Validateur ; Le Voyer AC, Validateur ; Nabarette H, Validateur ; Reveillere C, Validateur ; Urtizberea JA, Validateur ; Groupe d'interet Duchenne/Becker AFM-Telethon, Validateur | AFM-TELETHON | Savoir & Comprendre | 08/2020La dystrophie musculaire de Duchenne est une maladie rare qui se manifeste par une faiblesse musculaire progressive apparaissant dans l’enfance. Ce document a pour but de présenter une information générale sur ce qui peut être fait sur les plan[...]Article
Ferreira C ; Pierre G ; Thompson R ; Vernon H | 09/07/2020nitial Posting: October 9, 2014; Last Update: July 9, 2020. Clinical characteristics. Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...]Article
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Prasun P | 18/06/2020Clinical characteristics. Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenita[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Gourdon G, Validateur ; Loux N, Auteur ; Urtizberea JA, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2020Steinert disease or myotonic dystrophy type 1 is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It also affects other organs (heart and respiratory sys[...]Publication AFM
Myoinfo, Auteur ; Bassez G, Validateur ; Furling D, Validateur ; Gourdon G, Validateur ; Loux N, Validateur ; Urtizberea JA, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2020Myotonic dystrophy type 2 or PROMM (Proximal Myotonic Myopathy) is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It can also affect other organs (hear[...]Publication AFM
Les glycogénoses musculaires sont des maladies musculaires rares d’origine génétique qui se traduisent par une accumulation anormale de glycogène, une forme de réserve énergétique de l'organisme. Elles se manifestent fréquemment par une intolér[...]Article
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Highlights: Myotonic dystrophy covers a huge genetic and clinical variability. Review of the current models and literature. Review of molecular methods and interventions. Sharing of existing materials, models, protocols and data. Consensus [...]Article
Zuchner S | 14/05/2020Initial Posting: February 18, 2005; Last Update: May 14, 2020. Clinical characteristics. MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal domi[...]Article
Lefeuvre C ; Schaeffer S ; Carlier RY ; Fournier M ; Chapon F ; Biancalana V ; Nicolas G ; Malfatti E ; Laforet P | 05/2020Article
Carrillo N ; Malicdan MC ; Huizing M | 09/04/2020Initial Posting: March 26, 2004; Last Update: April 9, 2020. Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibial[...]Article
Stunnenberg B ; LoRusso S ; Arnold WD ; Barohn RJ ; Cannon SC ; Fontaine B ; Griggs RC ; Hanna MG ; Matthews E ; Meola G ; Sansone VA ; Trivedi JR ; van Engelen B ; Vicart S ; Statland JM | United States | 04/2020Article
Schoser B | 19/03/2020Initial Posting: September 21, 2006; Last Update: March 19, 2020. Clinical characteristics. Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less[...]Article
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Cortes Vicente E ; Alvarez Velasco R ; Segovia S ; Paradas C ; Casasnovas C ; Guerrero Sola A ; Pardo J ; Ramos Fransi A ; Sevilla T ; Lopez de Munain A ; Gomez MT ; Jerico I ; Gutierrez Gutierrez G ; Pelayo Negro AL ; Martin MA ; Mendoza MD ; Moris G ; Rojas Garcia R ; Diaz-Manera J ; Querol L ; Gallardo E ; Velez B ; Alberti MA ; Galan L ; Garcia Sobrino T ; Martinez-Pineiro A ; Lozano-Veintimilla A ; Fernandez Torron R ; Cano-Abascal A ; Illa I | United States | 03/2020Article
Suarez-Calvet X ; Alonso Perez J ; Castellví I ; Carrasco-Rozas A ; Fernandez-Simon E ; Zamora C ; Martinez-Martinez L ; Alonso-Jimenez A ; Rojas Garcia R ; Turon J ; Querol L ; de Luna N ; Milena-Millan A ; Corominas H ; Castillo D ; Cortes Vicente E ; Illa I ; Gallardo E ; Diaz-Manera J | United States | 03/2020Article
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Silva THD ; Anequini IP ; Favero FM ; Voos MC ; Oliveira ASB ; Telles JAR ; Caromano FA | Brazil | 02/2020Article
Garibaldi M ; Fionda L ; Vanoli F ; Leonardi L ; Loreti S ; Bucci E ; Di Pasquale A ; Morino S ; Vizzaccaro E ; Merlonghi G ; Ceccanti M ; Lucchini M ; Mirabella M ; Andreetta F ; Pennisi EM ; Petrucci A ; Salvetti M ; Antonini G | Netherlands | 02/2020Article
Aiko N ; Yamakawa H ; Iwasawa T ; Takemura T ; Okudela K ; Kitamura H ; Hagiwara E ; Ikeda S ; Baba T ; Iso S ; Yamaguchi Y ; Kondo Y ; Kurabayashi T ; Ohashi K ; Sato S ; Ogura T | Netherlands | 02/2020Article
Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R | 16/01/2020Initial Posting: December 19, 2003; Last Update: January 16, 2020. Clinical characteristics. Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeleta[...]Article
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Molenaar JP ; Verhoeven JI ; Rodenburg RJ ; Kamsteeg EJ ; Erasmus CE ; Vicart S ; Behin A ; Bassez G ; Magot A ; Pereon Y ; Brandom BW ; Guglielmi V ; Vattemi G ; Chevessier F ; Mathieu J ; Franques J ; Suetterlin K ; Hanna MG ; Guyant-Marechal L ; Snoeck MM ; Roberts ME ; Kuntzer T ; Fernandez Torron R ; Martínez-Arroyo A ; Seeger J ; Kusters B ; Treves S ; van Engelen BG ; Eymard B ; Voermans NC ; Sternberg D | England | 2020Article
Kaplan FS, Auteur | 01/2020January, 2020 [Revised: Pages 105, 106] // June, 2019 [Revised: Pages 3, 6, 54, 101, 106] From The International Clinical Council on FOP (ICC) & Consultants: Kaplan FS, Al Mukaddam M, Baujat G, Brown M, Cali A, Cho T-J, Crowe C, De Cunto C[...]Article
Tripoli A ; Marasco E ; Cometi L ; De Stefano L ; Marcucci E ; Furini F ; Barsotti S ; Cavagna L | Italy | 01/2020Article
Akesson LS ; Savarirayan R | 2020Clinical characteristics. Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including [...]Article
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Labrador E ; Weinstein DA | 27/11/2019Initial Posting: April 23, 2009; Last Update: November 27, 2019. Clinical characteristics. Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzy[...]Article
Des mutations récessives dans le gène PYROXD1 ont été récemment décrites chez des patients présentant un tableau de myopathie congénitale ou de dystrophie musculaire des ceintures [1-4]. PYROXD1 (PYRidine nucleotide-disulfide OXidoreductase Doma[...]Article
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Gunther R, Auteur ; Wurster CD ; Cordts I ; Koch JC ; Kamm C ; Petzold D ; Aust E ; Deschauer M ; Lingor P ; Ludolph AC ; Hermann A | Switzerland | 11/2019Article
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Bjelica B, Auteur ; Peric S ; Basta I ; Bozovic I ; Kacar A ; Marjanovic A ; Ivanovic V ; Brankovic M ; Jankovic M ; Novakovic I ; Rakocevic Stojanovic V | Italy | 11/2019Article
Annals of neurology POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing J, Auteur ; Johnson K ; Topf A ; Nafissi S ; Diaz-Manera J ; French VM ; Schindler RF ; Sarathchandra P ; Lokken N ; Rinne S ; Freund M ; Decher N ; Müller T ; Duno M ; Krag T ; Brand T ; Straub V | United States | 10/2019Article
Pinal Fernandez I, Auteur ; Mecoli CA ; Casal-Dominguez M ; Pak K ; Hosono Y ; Huapaya J ; Huang W ; Albayda J ; Tiniakou E ; Paik JJ ; Johnson C ; Danoff SK ; Corse AM ; Christopher Stine L ; Mammen AL | United States | 10/2019Article
Kimonis V | 12/09/2019Initial Posting: May 25, 2007; Last Update: September 12, 2019. Clinical characteristics. Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal [...]Article
Peric S ; Stevanovic J ; Johnson K ; Kosac A ; Peric M ; Brankovic M ; Marjanovic A ; Jankovic M ; Banko B ; Milenkovic S ; Durdic M ; Bozovic I ; Glumac JN ; Lavrnic D ; Maksimovic R ; Milic-Rasic V ; Rakocevic-Stojanovic V | Italy | 09/2019Article
Ngiwsara L, Auteur ; Wattanasirichaigoon D ; Tim-Aroon T ; Rojnueangnit K ; Noojaroen S ; Khongkraparn A ; Sawangareetrakul P ; Ketudat-Cairns JR ; Charoenwattanasatien R ; Champattanachai V ; Kuptanon C ; Pangkanon S ; Svasti J | England | 09/2019Article
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Penttila S ; Vihola A ; Palmio J ; Udd B | 22/08/2019Initial Posting: November 29, 2012; Last Update: August 22, 2019. Clinical characteristics. The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal m[...]Article
Bonne G ; Leturcq F ; Ben Yaou R | 15/08/2019Initial Posting: September 29, 2004; Last Update: August 15, 2019. Clinical characteristics. Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progr[...]Article
Magoulas PL ; El-Hattab AW | 01/08/2019Initial Posting: January 3, 2013; Last Update: August 1, 2019. Clinical characteristics. The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ag[...]Article
Saito K | 03/07/2019Initial Posting: January 26, 2006; Last Update: July 3, 2019. Clinical characteristics. Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that[...]Article
Initial Posting: June 20, 2019. Clinical characteristics. STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected ind[...]Article
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Hackman P ; Savarese M ; Carmignac V ; Udd B ; Salih MA | 11/04/2019Initial Posting: January 12, 2012; Last Update: April 11, 2019. Clinical characteristics. Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children ac[...]Article
Erratum in : Corrigendum to "Recently Identified Congenital Myopathies" [Semin Pediatr Neurol 29 (2019) 83-90].Article
Lagrue E ; Dogan C ; De Antonio M ; Audic F ; Bach N ; Barnerias C ; Bellance R ; Cances C ; Chabrol B ; Cuisset JM ; Desguerre I ; Durigneux J ; Espil C ; Fradin M ; Heron D ; Isapof A ; Jacquin-Piques A ; Journel H ; Laroche-Raynaud C ; Laugel V ; Magot A ; Manel V ; Mayer M ; Pereon Y ; Perrier-Boeswillald J ; Peudenier S ; Quijano Roy S ; Ragot-Mandry S ; Richelme C ; Rivier F ; Sabouraud P ; Sarret C ; Testard H ; Vanhulle C ; Walther Louvier U ; Gherardi R ; Hamroun D ; Bassez G | 19/02/2019Article
Wieser T | 03/01/2019Initial Posting: August 27, 2004; Last Revision: January 3, 2019. Clinical characteristics. Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal n[...]Article
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Okur D ; Daimaguler HS ; Danyeli AE ; Tekgul H ; Wang H ; Wunderlich G ; Cirak S ; Yis U | Turkey | 2019Article
El-Hattab AW ; Almannai M ; Scaglia F | 29/11/2018Initial Posting: February 27, 2001; Last Update: November 29, 2018. Clinical characteristics. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast [...]Article
Herbert M ; Goldstein JL ; Rehder C ; Austin S ; Kishnani PS ; Bali DS | 01/11/2018Initial Posting: May 31, 2011; Last Update: November 1, 2018. Clinical characteristics. Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, whi[...]Article
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Dowling JJ ; Lawlor MW ; Das S | 23/08/2018Initial Posting: February 25, 2002; Last Update: August 23, 2018. Clinical characteristics. X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. [...]Article
Wolfe L ; Jethva R ; Oglesbee D ; Vockley J | 09/08/2018Initial Posting: September 22, 2011; Last Update: August 9, 2018. Clinical characteristics. Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asympto[...]Article
Weber F ; Lehmann-Horn F | 26/07/2018Initial Posting: April 30, 2002; Last Update: July 26, 2018. Clinical characteristics. Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (ser[...]Article
Wang J ; El-Hattab AW | 26/07/2018Initial Posting: December 6, 2012; Last Update: July 26, 2018. Clinical characteristics. TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individua[...]Article
Goselink RJM, Auteur ; van Kernebeek CR ; Mul K ; Lemmers RJLF ; van der Maarel SM ; Brouwer OF ; Voermans N ; Padberg GW ; Erasmus CE ; van Engelen BGM | 03/05/2018Comment in: Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy. [Eur J Paediatr Neurol. 2018]Article
Ivanov I, Auteur ; Atkinson D ; Litvinenko I ; Angelova L ; Andonova S ; Mumdjiev H ; Pacheva I ; Panova M ; Yordanova R ; Belovejdov V ; Petrova A ; Bosheva M ; Shmilev T ; Savov A ; Jordanova A | 03/04/2018Article
Garone C, Auteur ; Taylor RW ; Nascimento A ; Poulton J ; Fratter C ; Dominguez Gonzalez C ; Evans JC ; Loos M ; Isohanni P ; Suomalainen A ; Ram D ; Hughes MI ; McFarland R ; Barca E ; Lopez Gomez C ; Jayawant S ; Thomas ND ; Manzur AY ; Kleinsteuber K ; Martin MA ; Kerr T ; Gorman GS ; Sommerville EW ; Chinnery PF ; Hofer M ; Karch C ; Ralph J ; Camara Y ; Madruga-Garrido M ; Dominguez-Carral J ; Ortez C ; Emperador S ; Montoya J ; Chakrapani A ; Kriger JF ; Schoenaker R ; Levin B ; Thompson JLP ; Long Y ; Rahman S ; Donati MA ; DiMauro S ; Hirano M | 30/03/2018Article
DA Dyment ; Bennett SAL ; Medin JA ; Levade T | 29/03/2018Initial Posting: March 29, 2018. Clinical characteristics. The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized b[...]Article
Mori Yoshimura M, Auteur ; Mitsuhashi S ; Nakamura H ; Komaki H ; Goto K ; Yonemoto N ; Takeuchi F ; Hayashi YK ; Murata M ; Takahashi Y ; Nishino I ; Takeda S ; Kimura E | 26/03/2018Article
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Szymaiska E, Auteur ; Szymaiska S ; Truszkowska G ; Ciara E ; Pronicki M ; Shin YS ; Podskarbi T ; Kepka A ; spiewak M ; Ptoski R ; Bilinska ZT ; Rokicki D | 2018Article
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Todd JJ, Auteur ; Razaqyar MS ; Witherspoon JW ; Lawal TA ; Mankodi A ; Chrismer IC ; Allen C ; Meyer MD ; Kuo A ; Shelton MS ; Amburgey K ; Niyazov D ; Fequiere P ; Bonnemann CG ; Dowling JJ ; Meilleur KG | 2018Article