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

NF, Clarke; H, Kolski; DE, Dye; E, Lim; RL, Smith; R, Patel; MC, Fahey; R, Bellance; NB, Romero; ES, Johnson; A, Labarre-Vila; N, Monnier; NG, Laing; KN, North

doi:10.1002/ana.21308

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

Shared by NobleBlocks on Mar 1, 2008 • 12:00 AM UTC

Authors:

Clarke NF

Kolski H

Dye DE

Abstract

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 t...

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