Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation
H Tajsharghi, E Kimber, D Holmgren, M Tulinius… - Neurology, 2007 - AAN Enterprises
H Tajsharghi, E Kimber, D Holmgren, M Tulinius, A Oldfors
Neurology, 2007•AAN EnterprisesTropomyosin (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 β-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.
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 β-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.
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 β-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.
American Academy of Neurology