Article
Dysferlinopathies.
Neurology India - 1 Jan 2000
Urtizberea J Andoni, Bassez Guillaume, Leturcq France, Nguyen Karine, Krahn Martin, Levy Nicolas
Abstract excerpt
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). A growing number of clinical variants have recently been...
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