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Neuromuscul Disord. 2006 Dec;16(12):882-6. Epub 2006 Nov 21.

Myosin storage (hyaline body) myopathy: a case report.

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  • 1Department of Pathology, University of Sydney, Australia. meena.shingde@email.cs.nsw.gov.au

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 1 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.

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PMID:
17118657
[PubMed - indexed for MEDLINE]
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