Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

D.E. Dye, B. Azzarelli, H.H. Goebel, Nigel Laing

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy. (C) 2006 Elsevier B.V. All rights reserved.
Original languageEnglish
Pages (from-to)357-360
JournalNeuromuscular Disorders
Volume16
Issue number6
DOIs
Publication statusPublished - 2006

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