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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)