EP.113Infantile-onset CMT2Z is caused by two MORC2 gene mutations and is associated with a distinct phenotype

In 2016, MORC2 was added to the list of genes associated with axonal Charcot-Marie-Tooth disease, CMT2Z. Most CMT2Z patients develop symptoms of motor and sensory neuropathy in childhood or early adulthood with additional features like intellectual disability, cranial nerve involvement and seizures. In addition to the MORC2 hotspot mutation p.R190W, several familial mutations have been described. A distinct infantile-onset phenotype due to de novo MORC2 mutations has been described so far in six CMT2Z patients.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: G. Stettner, U. Knirsch, W. Berger, U. Graf, B. Hendriks, R. Seidl, G. Bernert, J. Behunova, F. Laccone, S. Weiss Source Type: research