POLG1 Mutations and Charcot-Marie-Tooth Disease

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.

Keywords

• polg1 mutations
• charcot-marie-tooth disease
• mitochondrial phenotype