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

Authors :
Dye DE
Azzarelli B
Goebel HH
Laing NG
Source :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2006 Jun; Vol. 16 (6), pp. 357-60. Date of Electronic Publication: 2006 May 08.
Publication Year :
2006

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.

Details

Language :
English
ISSN :
0960-8966
Volume :
16
Issue :
6
Database :
MEDLINE
Journal :
Neuromuscular disorders : NMD
Publication Type :
Academic Journal
Accession number :
16684601
Full Text :
https://doi.org/10.1016/j.nmd.2006.03.011