title: Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.
abstract: Nemaline myopathy (NM) is a genetically and clinically heterogenous muscle disorder, which is myopathologically characterized by nemaline bodies. Mutations in six genes have been reported to cause NM: Nebulin (NEB Pelin 1999), alpha-skeletal muscle actin (ACTA1 Nowak 1999), alpha-slow tropomyosin (TPM3 Laing 1995), beta-tropomyosin (TPM2 Donner 2002), slow troponin T (TNNT1 Johnston 2000) and cofilin 2 (CFL2 Agrawal 2007). The majority of cases are due to mutation in NEB and ACTA1. We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr).
authors.forename: I C
authors.initials: IC
authors.lastname: Kiphuth
authors.forename: S
authors.initials: S
authors.lastname: Krause
authors.forename: H B
authors.initials: HB
authors.lastname: Huttner
authors.forename: G
authors.initials: G
authors.lastname: Dekomien
authors.forename: T
authors.initials: T
authors.lastname: Struffert
authors.forename: R
authors.initials: R
authors.lastname: Schröder
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005858:Germany; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology; D016415:Sequence Alignment / Q000379:methods; D014335:Tropomyosin / Q000235:genetics*; D055815:Young Adult
chemical_list: C498783:TPM3 protein, human; D014335:Tropomyosin