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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Nyckelord

Adult

Aged

Arginine/genetics

Arthrogryposis/*genetics

DNA Mutational Analysis/methods

Exons

Family Health

Female

Humans

Muscle Weakness/*genetics

Mutation

Missense/*genetics

Tropomyosin/*genetics

Tryptophan/genetics

MEDICINE

Medical sciences

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)