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

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

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...

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Main Authors: Clarke, N., Kolski, H., Dye, Danielle, Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., Labarre-Vila, A., Monnier, N., Laing, N., North, K.
Format: Journal Article
Published: John Wiley and Son 2008
Online Access:http://hdl.handle.net/20.500.11937/16774

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