Rare Mutation in ALS-linked SOD1 Gene Helps Lead to CMT Diagnosis
A rare mutation in the SOD1 gene helped doctors to diagnose a woman with Charcot-Marie-Tooth (CMT) disease, a study reports. Although SOD1 mutations are commonly associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS), clinical assessments confirmed a CMT diagnosis. Researchers hoped this report would raise awareness…