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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
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
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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
Mahler M ; Malyavantham K ; Seaman A ; Bentow C ; Anunciacion-Llunell A ; Sanz-Martinez MT ; Viñas-Gimenez L ; Selva-O Callaghan A | 30/11/2021Article
Nous présentons le cas d’un patient de 45 ans, premier d’une fratrie de deux enfants issus de parents consanguins d’origine française.Article
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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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
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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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Hauw F ; Fargeot G ; Adams D ; Attarian S ; Cauquil C ; Chanson JB ; Creange A ; Gendre T ; Deiva K ; Delmont E ; Francou B ; Genestet S ; Kuntzer T ; Latour P ; Le Masson G ; Magy L ; Nardin C ; Ochsner F ; Sole G ; Stojkovic T ; Maisonobe T ; Tard C ; Van den Berghe P ; Echaniz-Laguna A | England | 01/06/2021Article
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 [...]