Congenital Fiber Type Disproportion Genetics

J Gordon Millichap

doi:10.15844/pedneurbriefs-22-4-7

Congenital Fiber Type Disproportion Genetics

Pediatric Neurology Briefs

Volume 22 (2008): Issue 4

By: J Gordon Millichap

Open Access

|Apr 2008

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.

References

Clarke NF Kolski H Dye DE Lim E Smith RL Patel R Mutations in TPM3 are common causes of congenital fiber type disproportion Ann Neurol 2008 March 63 3 329 337 10.1002/ana.21308 18300303
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-22-4-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 30 - 31

Published on: Apr 1, 2008

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Congenital Fiber Type Disproportion,

Intellectual Function,

TPM3 Mutation

© 2008 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 22 (2008): Issue 4