Mutations in TPM3 are a common cause of congenital fiber type disproportion.

@article{Clarke2008MutationsIT,
  title={Mutations in TPM3 are a common cause of congenital fiber type disproportion.},
  author={Nigel F. Clarke and Hanna H Kolski and Danielle E Dye and Esther Li Ping Lim and Robert L. Smith and Rakesh Patel and Michael C. Fahey and R{\'e}mi Bellance and Norma Beatriz Romero and Edward S. Johnson and Annick Labarre-Vila and Nicole Monnier and Nigel G Laing and Kathryn N North},
  journal={Annals of neurology},
  year={2008},
  volume={63 3},
  pages={329-37}
}
OBJECTIVE Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which the principal histological abnormality is hypotrophy of type 1 (slow-twitch) fibers compared with type 2 (fast-twitch) fibers. To date, mutation of ACTA1 and SEPN1 has been associated with CFTD, but the genetic basis in most patients is unclear. The gene encoding alpha-tropomyosin(slow) (TPM3) is a rare cause of nemaline myopathy, previously reported in only five families. We investigated whether… CONTINUE READING
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