Article
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain : a journal of neurology - 1 Sept 2023
Rehbein Tyler, Wu Tong Tong, Treidler Simona, Pareyson Davide, Lewis Richard, Yum Sabrina W, McCray Brett A, Ramchandren Sindhu, Burns Joshua, Li Jun, Finkel Richard S, Scherer Steven S, Zuchner Stephan, Shy Michael E, Reilly Mary M, Herrmann David N
Abstract excerpt
Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to date lacking. Gene replacement therapy has been shown to ameliorate...
Topics
- Male
- Scoliosis
- Cross-Sectional Studies
- Mutation
- Genetic Association Studies
- Female
- Charcot-Marie-Tooth Disease
- Mice
- Animals
- Prospective Studies