Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases
2005; Lippincott Williams & Wilkins; Volume: 64; Issue: 3 Linguagem: Inglês
10.1212/01.wnl.0000150581.37514.30
ISSN1526-632X
AutoresNigel G. Laing, Chantal Ceuterick‐de Groote, Danielle E. Dye, Khema Liyanage, Rachael M. Duff, Bénédicte Dubois, Wim Robberecht, Raf Sciot, J.J. Martin, Hans H. Goebel,
Tópico(s)Neurogenetic and Muscular Disorders Research
ResumoMyosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene ( MYH7 ) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.
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