Defects in PMP22, the protein involved in Charcot-Marie-Tooth disease type 1A (CMT1A), might play a role in the…
Articles by Joana Carvalho, PhD
The foot function index may be a promising tool to capture the impact of foot impairments in patients…
A group of potential gene modifiers have been found that may explain the reason why patients with Charcot-Marie-Tooth disease…
Scientists discovered a new mutation in the GARS gene in the first reported cases of two African siblings with…
Two new mutations associated with a mild form of Charcot-Marie-Tooth disease type 4H (CMT4H) have been found in…
Despite improving certain physical features, orthopedic foot surgery did not seem to improve strength, foot function, or overall quality…
The StepWatch Activity Monitor, unlike the 6-minute walk test, was able to detect progressive deterioration in patients with Charcot-Marie-Tooth disease…
The T118M variant of the PMP22 gene can cause painful peripheral neuropathy in people with Charcot-Marie-Tooth disease (CMT),…
An atypical case of an 11-year old boy diagnosed with Charcot-Marie-Tooth disease type 4C (CMT4C) associated with dropped head…
French researchers described a combination of surgical techniques that allows the correction of foot deformities associated with Charcot-Marie-Tooth disease (CMT).