Since the clinical features of the patient was suspicious of CMT, we sequenced 133 candidate genes for hereditary motor sensory neuropathy (HMSN) and identified a novel heterozygous mutation c.730G > C (p.Val244Leu) in MFN2. This mutation was not present in either of his parents. The gene discussed is MFN2; the disease is hereditary motor and sensory neuropathy.