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.
authors.affiliation: Centre for Neuromuscular and Neurologic Disorders, Australian Neuromuscular Research Institute and Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, Australia. nlaing@cyllene.uwa.edu.au
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick-de Groote
authors.forename: D E
authors.initials: DE
authors.lastname: Dye
authors.forename: K
authors.initials: K
authors.lastname: Liyanage
authors.forename: R M
authors.initials: RM
authors.lastname: Duff
authors.forename: B
authors.initials: B
authors.lastname: Dubois
authors.forename: W
authors.initials: W
authors.lastname: Robberecht
authors.forename: R
authors.initials: R
authors.lastname: Sciot
authors.forename: J-J
authors.initials: JJ
authors.lastname: Martin
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001530:Belgium; D024722:Cardiac Myosins; D005260:Female; D006801:Humans; D006818:Hyalin / Q000737:chemistry; D002479:Inclusion Bodies / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D018657:Muscle Fibers, Slow-Twitch / Q000737:chemistry / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D009218:Myosins / Q000378:metabolism*; D017354:Point Mutation; D011487:Protein Conformation
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins