Associated Papers
Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.
Xie Y et al.
Chinese Medical Journal, 2025
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
38789118 (PubMed )
Supplement: archdischild-2024-326985supp002.pdf
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
Lin HP et al.
Journal of Neuromuscular Diseases, 2019
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Select a paper to view details