Article
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Neuromuscular disorders : NMD - 1 Jul 2010
Odgerel Zagaa, Sarkozy Anna, Lee Hee-Suk, McKenna Caoimhe, Rankin Julia, Straub Volker, Lochmüller Hanns, Paola Francalanci, D'Amico Adele, Bertini Enrico, Bushby Kate, Goldfarb Lev G
Abstract excerpt
Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by disintegration of myofibrils. The inheritance pattern is commonly autosomal dominant, but there has been a striking absence of secondary cases noted in a BAG3-associated subtype. We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant...
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