New genetic cause of Charcot-Marie-Tooth disease identified

Written by Alice Weatherston

Genetic research and Biotech science Concept. Human Biology and pharmaceutical technology on laboratory background.

New research, published this week in Brain, has widened understanding of the inheritance of Charcot-Marie-Tooth disease (CMT). The team, based at the University of Pennsylvania (PA, USA), successfully indentified de-novo mutations associated with the most common form of CMT, termed CMT type 1 (CMT1), which affects nearly one in 2,500 Americans. To date, CMT1, caused by a malfunction in the Schwann cells of the myelin sheath, has only been linked to a limited set of five causative genes. Neurologists at the University of Pennsylvania initiated the study by analyzing the genetics of a father and son who were both being...

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