Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases
NG Laing, C Ceuterick-de Groote, DE Dye… - Neurology, 2005 - AAN Enterprises
NG Laing, C Ceuterick-de Groote, DE Dye, K Liyanage, RM Duff, B Dubois, W Robberecht…
Neurology, 2005•AAN EnterprisesMyosin 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.
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.
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.
American Academy of Neurology