摘要Objective: To analyze the clinical and genetic characteristics of late-onset Charcot–Marie–Tooth (CMT) type 2A. Methods: A pedigree survey combined with clinical and genetic testing was used for integrated analyses. Results: The proband showed muscle atrophy in both hips and thighs, obviously in the posterior sides of both legs. The serum creatine kinase (CK) value was 272U/L. EMG: the median nerve conduction velocity was normal and the nerves of both lower extremities showed neurogenic damage (mainly axonal). Genetic testing revealed a heterozygous variant in exon 9 of the MFN2 gene NM 014874: c.839G>A (p. R280H). The Father of the proband had similar symptoms of peripheral neuromuscular and the same heterozygous mutation, but the mother did not show similar clinical symptoms and the genetic mutation. Conclusion: Pedigree investigation combined with clinical and genetic analysis is a kind of reliable method for late-onset CMT2A diagnosing and helping to identify different neuromuscular diseases.