title: Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
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.
authors: 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.
authors: Danielle E
authors: DE
authors: Dye
authors: Biagio
authors: B
authors: Azzarelli
authors: Hans H
authors: HH
authors: Goebel
authors: Nigel G
authors: NG
authors: Laing