Article
Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.
Clinical neuropathology - 1 Jan 2000
Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky K F, Weis J, Fischer D
Abstract excerpt
Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located myonuclei in a large number of muscle fibers. Recently, different missense mutations in the dynamin 2 gene (DNM2, 19p13.2) have been shown to cause autosomal dominant CNM. We re-evaluated patients with a histopathological diagnosis of CNM and report on the clinical...
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