Author Archives: Steve Bryson PhD

Genetic Study Finds Novel CMT-linked Mutations

New genetic analysis tools identified previously unknown genetic mutations in people diagnosed with various types and subtypes of Charcot-Marie-Tooth (CMT) disease, a study reveals. The new techniques used to discern different genes and rare variants may enable researchers to improve detection rates of this neuropathic disorder. The study, “…

Study Reveals Genetic Makeup of CMT Patients in Central South China

Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…

Ultra Rare CMT Subtype 2Z Identified in 4 Chinese Families

Scientists in China examined the relationship between genetic mutations in the MORC2 gene and the various disease characteristics in people with the rare Charcot-Marie-Tooth disease subtype 2Z (CMT2Z).  Physicians should consider their study’s findings when working to diagnose unresolved cases showing…

CMT2A Study Links Genetic Variants to Disease Severity

A large multicenter study on the natural history of Charcot-Marie-Tooth disease type 2A (CMT2A) correlates different genetic profiles and disease-causing mutations to their effect on disease severity and progression.  The findings will help inform prognosis and provide data to support clinical…