Article
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 May 2014
Schneider Ilka, Stoltenburg Gisela, Deschauer Marcus, Winterholler Martin, Hanisch Frank
Abstract excerpt
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 kinase (CK) was increased 20-fold. Histologically the dominating feature was necrotizing myopathy, but long-term...
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