Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases

Nigel Laing, C. Groote, D.E. Dye, H.H. Goebel, Khemanganee Liyanage, K. Liyanage, R.M. Duff, B. Dubois, W. Robberecht, R. Sciot, J.J. Martin

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Myosin 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.
Original languageEnglish
Pages (from-to)527-529
JournalNeurology
Volume64
DOIs
Publication statusPublished - 2005

Fingerprint Dive into the research topics of 'Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases'. Together they form a unique fingerprint.

Cite this