Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia. We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the age of 40. Creatine...

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Detalles Bibliográficos
Autores principales: SCHNEIDER, ILKA, STOLTENBURG, GISELA, DESCHAUER, MARCUS, WINTERHOLLER, MARTIN, HANISCH, FRANK
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021630/
https://www.ncbi.nlm.nih.gov/pubmed/24843231

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