Author Archives: Lindsey Shapiro PhD

A new MME gene mutation was discovered in three members of a large Iranian family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT2), according to a recent case report. The report, “A nonsense mutation in MME gene associates with autosomal recessive late-onset…

Multiple respiratory complications, including a collapsed lung and diaphragm dysfunction, were identified in a man with Charcot-Marie-Tooth disease type 2 (CMT2) that was associated with an MFN2 gene mutation, according to a recent case study. “To our knowledge, this is the first demonstration of a CMT patient carrying an…

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…