A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.

Background: Charcot-Marie-Tooth disease (CMT) is among the most common group of inherited neuromuscular diseases. mutations were demonstrated to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). However, there have been few case reports regarding to and gene mutation to CMT in Vietnamese patients, and the diagnosis of and in the clinical setting still overlapped.