MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes

Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, electrophysiological findings. Approximately 140 genes have been reported to associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced differentiation related 1 (GDAP1), neurofilament light-chain polypeptide gene (NEFL) cause all three types CMT, which noteworthy because most CMT-related single type (either demyelinating axonal). In contrast, it remains unclear why these several presently incurable; however, ongoing attempts treat various drugs dietary supplements increased importance an exact genetic diagnosis for precision medicine. Therefore, important identify causative mutations compare clinical characteristics. Taken together, comparison features patients MPZ, GDAP1, NEFL will first step understanding how different are caused, enable molecular diagnosis. this review, we describe electrophysiological, characteristics MPZ-, GDAP1-, NEFL-related