文献类型：期刊文献

英文题名：A Case Report and Literature Review of Charcot-Marie-Tooth Disease Type 2F in a Family

作者：Lei, Yanli[1];Cheng, Li[1];Zhao, Weijing[2];Che, Pengfei[1];Dong, Xue[1];Ma, Lei[1]

第一作者：雷亚莉

通信作者：Ma, L[1]

机构：[1]Gansu Univ Chinese Med, Lanzhou Petrochem Gen Hosp, Affiliated Hosp 4, Lanzhou, Gansu, Peoples R China;[2]Gansu Prov Peoples Hosp, Lanzhou, Gansu, Peoples R China

第一机构：甘肃中医药大学

通信机构：[1]corresponding author), Gansu Univ Chinese Med, Lanzhou Petrochem Gen Hosp, Affiliated Hosp 4, Lanzhou, Gansu, Peoples R China.|[10735]甘肃中医药大学;

年份：2025

卷号：15

起止页码：117

外文期刊名：DEGENERATIVE NEUROLOGICAL AND NEUROMUSCULAR DISEASE

收录：WOS:【ESCI(收录号:WOS:001600624200001)】；

语种：英文

外文关键词：Charcot-Marie-Tooth disease; HSPB1 mutation; HSP27; hereditary neuropathy; axonal degeneration

摘要：Objective: To report the clinical and genetic characteristics of a rare Charcot-Marie-Tooth disease type 2F (CMT2F) pedigree, and to explore the phenotypic diversity and diagnostic essentials of the mutation in combination with literature review.
Methods: The clinical data, electrophysiological findings, and genetic testing results of the proband and pedigree members were retrospectively analyzed, and relevant literatures were reviewed for comparative analysis.
Results: Both patients had an onset in middle and old age (50/66 years), presenting with distal lower limb muscle weakness (Grade III), muscle atrophy, absent tendon reflexes, pes cavus, and sensory abnormalities. Serum creatine kinase (CK) was elevated (474 U/L), and electromyography indicated axonal peripheral nerve damage. Genetic testing revealed a heterozygous mutation of HSPB1 gene c.418C>G [p.Arg140Gly], which was verified by co-segregation in the pedigree. Literature review showed that this mutation causes axonal transport dysfunction by impairing the chaperone function of HSP27.
Conclusion: This study expands the phenotypic spectrum of late-onset CMT2F, with some patients showing mild elevation of serum CK. It provides new clinical evidence for the pathogenicity of this mutation.