Lindsey Shapiro, PhD,  science writer—

A new SCO2 gene mutation was identified in two brothers with Charcot-Marie-Tooth disease (CMT), and likely causes symptoms by disrupting the function of the mitochondria — the cell’s powerhouses — according to a recent case report. The mutation is one of the few described in SCO2 to be associated…

An NEFH gene mutation was identified in three unrelated Japanese families with Charcot-Marie-Tooth (CMT) disease and one family with spinal muscular atrophy (SMA), suggesting they share a common ancestor, a recent study proposes.  The study marks the first case of CMT type…

New mutations in the FGD4 gene associated with Charcot-Marie-Tooth disease type 4H (CMT4H) have been identified in a 12-year-old boy in China. The study, “Novel FGD4 Variants and Literature Review of Charcot-Marie-Tooth Disease Type 4H,” was published…