title: Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
abstract: Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin interaction. We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. Our results demonstrate the involvement of muscle dysfunction in the pathogenesis of DA and the fact that DA2B may be caused by mutations in TPM2.
authors.affiliation: Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden. homa.tajsharghi@pathology.gu.se
authors.forename: H
authors.initials: H
authors.lastname: Tajsharghi
authors.forename: E
authors.initials: E
authors.lastname: Kimber
authors.forename: D
authors.initials: D
authors.lastname: Holmgren
authors.forename: M
authors.initials: M
authors.lastname: Tulinius
authors.forename: A
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D001176:Arthrogryposis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D014335:Tropomyosin / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
chemical_list: D014335:Tropomyosin; D014364:Tryptophan; D001120:Arginine