COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report

Abstract

Our work confirms the link between COX6A1 gene and hereditary neuropathy. Mutations in COX6A1 might not be as rare as previously thought and we recommend including the COX6A1 gene in a gene panel design for hereditary neuropathies.

The study was approved by the ethics committee of University Hospital Motol, and the informed consent was obtained from the patient.

Keywords

• COX6A1
• neuropathy