POLG1 Mutations and Charcot-Marie-Tooth Disease

J Gordon Millichap

doi:10.15844/pedneurbriefs-22-2-5

POLG1 Mutations and Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs

Volume 22 (2008): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2008

Abstract

A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.

References

Harrower T Stewart JD Hudson G Houlden H Warner G O’Donovan DG POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease Arch Neurol 2008 Jan 65 1 133 6 10.1001/archneurol.2007.4 18195151
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Braathen GJ Sand JC Bukholm G Russell MB Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease BMC Neurol 2007 Jul 9 7 19 28 17620124
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-22-2-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 13 - 13

Published on: Feb 1, 2008

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

POLG1 Mutations,

Charcot-Marie-Tooth Disease,

Mitochondrial Phenotype

© 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 2