Article
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS - 1 Jun 2020
Dong Hai-Lin, Wei Qiao, Li Jia-Qi, Li Hong-Fu, Bai Ge, Ma Huan, Wu Zhi-Ying
Abstract excerpt
Mutations in MCM3AP have recently been reported to cause autosomal recessive Charcot-Marie-Tooth disease (CMT). However, only nine CMT families with MCM3AP mutations have been reported and genotype-phenotype correlation remains unclear. This study aimed to investigate the genetic spectrum of MCM3AP and its relationship with phenotype of CMT. Whole-exome sequencing (WES) was performed in the family and variants...
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