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Title: Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases
Authors: Laing, N G ×
Ceuterick-de Groote, C
Dye, D E
Liyanage, K
Duff, R M
Dubois, Bénédicte
Robberecht, Wim
Sciot, Raphael
Martin, J-J
Goebel, H H #
Issue Date: Feb-2005
Series Title: Neurology vol:64 issue:3 pages:527-529
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.
URI: 
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Translational Cell & Tissue Research
Laboratory for Neurobiology (Vesalius Research Center)
Laboratory for Neuroimmunology
× corresponding author
# (joint) last author

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