Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
Article Details
- CitationCopy to clipboard
Dye DE, Azzarelli B, Goebel HH, Laing NG
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
Neuromuscul Disord. 2006 Jun;16(6):357-60. Epub 2006 May 8.
- PubMed ID
- 16684601 [ View in PubMed]
- 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.