Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
DE Dye, B Azzarelli, HH Goebel, NG Laing - Neuromuscular Disorders, 2006 - Elsevier
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 …
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 …