CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

ABSTRACT:

Objective

We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10.

Methods

We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were performed in selected cases. Neuropathologic autopsy was performed in 1 case.

Results

The c.197G>T variant in CHCHD10 was found in 6 families, 4 of which included multiple individuals available for detailed clinical study. Variants in this gene have recently been associated with amyotrophic lateral sclerosis-frontotemporal dementia, mitochondrial myopathy, or spinal muscular atro

SUBMITTER: Auranen M 

PROVIDER: S-EPMC4821082 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature