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

doi:10.1212/01.WNL.0000150581.37514.30

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 journal › Article › peer-review

44 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 language	English
Pages (from-to)	527-529
Journal	Neurology
Volume	64
DOIs	https://doi.org/10.1212/01.WNL.0000150581.37514.30
Publication status	Published - 2005

Access to Document

10.1212/01.WNL.0000150581.37514.30

Cite this

@article{4de474aa75d149b9b487177bfe65d8d5,

title = "Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases",

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.",

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

year = "2005",

doi = "10.1212/01.WNL.0000150581.37514.30",

language = "English",

volume = "64",

pages = "527--529",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams & Wilkins",

}

TY - JOUR

T1 - Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases

AU - Laing, Nigel

AU - Groote, C.

AU - Dye, D.E.

AU - Goebel, H.H.

AU - Liyanage, Khemanganee

AU - Liyanage, K.

AU - Duff, R.M.

AU - Dubois, B.

AU - Robberecht, W.

AU - Sciot, R.

AU - Martin, J.J.

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

U2 - 10.1212/01.WNL.0000150581.37514.30

DO - 10.1212/01.WNL.0000150581.37514.30

M3 - Article

C2 - 15699387

SN - 0028-3878

VL - 64

SP - 527

EP - 529

JO - Neurology

JF - Neurology

ER -

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

Abstract

Access to Document

Fingerprint

Cite this