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Mutations in <i>TPM3</i> are a common cause of congenital fiber type disproportion

25 Feb 2008

Abstract excerpt

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...

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PMID: 18300303
DOI: 10.1002/ana.21308

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