POLG1 Mutations and Charcot-Marie-Tooth Disease

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-22-2-5

Keywords:

POLG1 Mutations, Charcot-Marie-Tooth Disease, Mitochondrial Phenotype

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.

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Published

2008-02-01

Issue

Section

Neuromuscular Disorders