When to Test for Mitofusin-2 Mutations in Patients with Axonal Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a “grab bag” term used to describe inherited peripheral neuropathies. The known complexity of CMT has grown tremendously with the recognition that inheritance patterns vary (autosomal-dominant, autosomal-recessive, and X-linked); that it may be caused by mutations in more than 30 different genes; and that it may produce different electrophysiological phenotypes (axonal and demyelinating), as well as varying clinical phenotypes. Unraveling the genetic cause of CMT has become daunting for the neuromuscular specialist, let alone the general neurologist.

Now, investigators report results of a genotype–phenotype correlation study in 126 patients with the axonal form of CMT, also known as CMT2. Of 27 patients w…