Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
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.
Tajsharghi
H
H
Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden. homa.tajsharghi@pathology.gu.se
Kimber
E
E
Holmgren
D
D
Tulinius
M
M
Oldfors
A
A
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
D014335:Tropomyosin; D014364:Tryptophan; D001120:Arginine