title: Myosin storage (hyaline body) myopathy: a case report.
abstract: Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium. The clinical severity and age of onset was variable, despite the same disease-causing mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population.
authors.affiliation: Department of Pathology, University of Sydney, Australia. meena.shingde@email.cs.nsw.gov.au
authors.forename: Meena V
authors.initials: MV
authors.lastname: Shingde
authors.forename: Penelope J
authors.initials: PJ
authors.lastname: Spring
authors.forename: Adam
authors.initials: A
authors.lastname: Maxwell
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Wills
authors.forename: Clive G
authors.initials: CG
authors.lastname: Harper
authors.forename: Danielle E
authors.initials: DE
authors.lastname: Dye
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001315:Australia; D024722:Cardiac Myosins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006818:Hyalin / Q000378:metabolism* / Q000648:ultrastructure; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018908:Muscle Weakness / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D009135:Muscular Diseases / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D006113:United Kingdom / Q000208:ethnology; D044465:White People / Q000208:ethnology
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains