Congenital Fiber Type Disproportion Genetics

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-22-4-7

Keywords:

Congenital Fiber Type Disproportion, Intellectual Function, TPM3 Mutation

Abstract

Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.

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Published

2008-04-01

Issue

Section

Neuromuscular Disorders