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Yingchoncharoen P ; Charoenngam N ; Ponvilawan B ; Thongpiya J ; Chaikijurajai T ; Ungprasert P | United States | 06/2021PURPOSE: This study aimed to investigate the association between asthma and risk of myasthenia gravis (MG) using the method of systematic review and meta-analysis. METHODS: Potentially eligible studies were identified from Medline and EMBASE d[...]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
Atalaia A ; Ben Yaou R ; Wahbi K ; de Sandre-Giovannoli A ; Vigouroux C ; Bonne G | 13/05/2021Article
Last Update: May 7, 2021 (previous version June 3, 2020)Article
Howard Jr JF ; Vissing J ; Gilhus NE ; Leite MI ; Utsugisawa K ; Duda PW ; Farzaneh-Far R ; Murai H ; Wiendl H | England | 05/2021Article
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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
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Toussaint M ; Chatwin M ; Goncalves MR ; Gonzalez-Bermejo J ; Benditt JO ; McKim D ; Sancho J ; Hov B ; Sansone V ; Prigent H ; Carlucci A ; Wijkstra P ; Garabelli B ; Escarrabill J ; Pinto T ; Audag N ; Verweij-van den Oudenrijn L ; Ogna A ; Hughes W ; Devaux C ; Chaulet J ; Andersen T | England | 24/03/2021Article
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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
Sanchez Riera C ; Lozanoska-Ochser B ; Testa S ; Fornetti E ; Bouche M ; Madaro L | 02/03/2021Article
Matsumura T ; Saito T ; Mori M ; Kishida M ; Tamagaki K ; Yoshida Y ; Ishikawa Y ; Komai K ; Goto K ; Komori T | 03/2021Article
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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
Day JW ; Finkel RS ; Mercuri E ; Swoboda KJ ; Menier M ; van Olden R ; Tauscher Wisniewski S ; Mendell JR | 24/02/2021Article
Ventura F ; Williams E ; Ikeya M ; Bullock AN ; Ten Dijke P ; Goumans MJ ; Sanchez-Duffhues G | 19/02/2021Article
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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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Mosbah H ; Vatier C ; Boccara F ; Jeru I ; Vantyghem MC ; Donadille B ; Wahbi K ; Vigouroux C | France | 2021Article
Hangul C ; Karauzum SB ; Akkol EK ; Demir-Dora D ; Cetin Z ; Saygili EI ; Evcili G ; Sobarzo-Sanchez E | United Arab Emirates | 2021Article
Lioncino M ; Monda E ; Caiazza M ; Fusco A ; Cirillo A ; Dongiglio F ; Simonelli V ; Sampaolo S ; Ruggiero L ; Scarano G ; Pota V ; Frisso G ; Mazzaccara C ; d'Amati G ; Nigro G ; Russo MG ; Wahbi K ; Limongelli G | United States | 2021Article
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Slayter J ; Hodgkinson V ; Lounsberry J ; Brais B ; Chapman K ; Genge A ; Izenberg A ; Johnston W ; Lochmuller H ; O'Ferrall E ; Pfeffer G ; Plamondon S ; Rodrigue X ; Schellenberg K ; Shoesmith C ; Stables C ; Taillon M ; Warman-Chardon J ; Korngut L ; O'Connell C | 2021Article
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Kerpel-Fronius S ; Baroutsou V ; Becker S ; Carlesi R ; Collia L ; Franke-Bray B ; Kleist P ; Kurihara C ; Laranjeira LF ; Matsuyama K ; Naseem S ; Schenk J ; Silva H | 23/12/2020Article
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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
L’horloge biologique joue un rôle essentiel dans le contrôle de l’activité musculaire, en dissociant temporellement les fonctions métaboliques du muscle squelettique. Les capacités musculaires en réponse à l’exercice sont également circadiennes.[...]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
Extract from ScienceDirect onlien access to Neuromuscular Disorders : General features This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic [...]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
Madeo F ; Hofer SJ ; Pendl T ; Bauer MA ; Eisenberg T ; Carmona-Gutierrez D ; Kroemer G | United States | 23/09/2020Article
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
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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 [...]