Myosin storage (hyaline body) myopathy: A case report

M.V. Shingde, P.J. Spring, A. Maxwell, E.J. Wills, C.G. Harper, D.E. Dye, Nigel Laing, K.N. North

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type I muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium. The clinical severity and age of onset was variable, despite the same disease-causing mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population. (C) 2006 Published by Elsevier B.V.
Original languageEnglish
Pages (from-to)882-886
JournalNeuromuscular Disorders
Volume16
Issue number12
DOIs
Publication statusPublished - 2006

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