Article
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
Revue neurologique - 1 Feb 2012
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B
Abstract excerpt
Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like pattern. Comparing these patients with 12 other cases from the...
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