• Neuromuscul. Disord. · Jun 2006

    Case Reports

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

    • Danielle E Dye, Biagio Azzarelli, Hans H Goebel, and Nigel G Laing.
    • 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.
    • Neuromuscul. Disord. 2006 Jun 1; 16 (6): 357-60.

    AbstractMyosin 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.

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