Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

Limb girdle muscular dystrophy type 2B is a rare subtype of muscular dystrophy, the predominant feature of which is muscle weakness. The disease is caused by an autosomal recessively inherited reduction/absence of muscle dysferlin due to a mutation in dysferlin gene at 2p12-14. We report a 10 year o...

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Detalles Bibliográficos
Autores principales: Jethwa, Hannah, Jacques, Thomas S, Gunny, Roxanna, Wedderburn, Lucy R, Pilkington, Clarissa, Manzur, Adnan Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652784/
https://www.ncbi.nlm.nih.gov/pubmed/23641709
http://dx.doi.org/10.1186/1546-0096-11-19

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