Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
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.
Dye
Danielle E
DE
Molecular Neurogenetics Laboratory, Centre for Medical Research, West Australian Institute for Medical Research, University of Western Australia M519, 'B' Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.
Azzarelli
Biagio
B
Goebel
Hans H
HH
Laing
Nigel G
NG