To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heteroge...To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heterogeneity,with most disease-causing mutations located within the conserved guanosine triphosphatase(GTPase)domains.[3]Intra-familial variability within the family has been observed.Consequently,comprehensive genotype–phenotype studies of CMT2A,particularly in large cohorts,are essential for advancing the understanding of CMT.展开更多
基金supported by the National Natural Science Foundation of China(Nos.81771366 and 82171172)the Hunan Provincial Natural Science Foundation(Nos.2022JJ30910 and 2025JJ60567).
文摘To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heterogeneity,with most disease-causing mutations located within the conserved guanosine triphosphatase(GTPase)domains.[3]Intra-familial variability within the family has been observed.Consequently,comprehensive genotype–phenotype studies of CMT2A,particularly in large cohorts,are essential for advancing the understanding of CMT.
