title: [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
abstract: Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.
authors.affiliation: Neurologische Klinik, Universitätsklinik Erlangen, Deutschland. ines-christine.kiphuth@ukerlangen.de
authors.forename: I C
authors.initials: IC
authors.lastname: Kiphuth
authors.forename: E
authors.initials: E
authors.lastname: Neuen-Jacob
authors.forename: T
authors.initials: T
authors.lastname: Struffert
authors.forename: M
authors.initials: M
authors.lastname: Wehner
authors.forename: W
authors.initials: W
authors.lastname: Wallefeld
authors.forename: N
authors.initials: N
authors.lastname: Laing
authors.forename: R
authors.initials: R
authors.lastname: Schröder
mesh_terms: D000328:Adult; D024722:Cardiac Myosins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D051457:Hyaline Cartilage / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics*; D009218:Myosins / Q000235:genetics* / Q000378:metabolism*
chemical_list: C501641:MYH7 protein, human; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins