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

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Population

23 unrelated probands with congenital fiber type disproportion or CFTD-like presentations of unknown cause

Design

Case_series

Authors

Discussion

May inform TPM3 testing in suspected CFTD; leaves open validation of prevalence beyond case reports.

Population

23 unrelated probands with congenital fiber type disproportion (CFTD) or CFTD-like presentations of unknown cause

Intervention

Sequencing of the TPM3 gene

Outcome

Identification of TPM3 mutations

Mutations in the TPM3 gene are identified as the most common genetic cause of congenital fiber type disproportion (CFTD).

Clarke et al. (2008) studied this question.

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