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已发表论文
一例家族性 Charcot-Marie-Tooth 疾病 2F 型病例报告及文献综述
Authors Lei Y, Cheng L, Zhao W, Che P, Dong X, Ma L
Received 9 May 2025
Accepted for publication 1 October 2025
Published 22 October 2025 Volume 2025:15 Pages 117—122
DOI https://doi.org/10.2147/DNND.S539370
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Thomas Müller
Yanli Lei,1 Li Cheng,1 Weijing Zhao,2 Pengfei Che,1 Xue Dong,1 Lei Ma1
1Lanzhou Petrochemical General Hospital (The Fourth Affiliated Hospital of Gansu University of Chinese Medicine), Lanzhou, Gansu, People’s Republic of China; 2Gansu Provincial People’s Hospital, Lanzhou, Gansu, People’s Republic of China
Correspondence: Lei Ma, Lanzhou Petrochemical General Hospital (The Fourth Affiliated Hospital of Gansu University of Chinese Medicine), Lanzhou, Gansu, People’s Republic of China, Email 570177515@qq.com
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.
Keywords: Charcot-Marie-Tooth disease, HSPB1 mutation, HSP27, hereditary neuropathy, axonal degeneration
1Lanzhou Petrochemical General Hospital (The Fourth Affiliated Hospital of Gansu University of Chinese Medicine), Lanzhou, Gansu, People’s Republic of China; 2Gansu Provincial People’s Hospital, Lanzhou, Gansu, People’s Republic of China
Correspondence: Lei Ma, Lanzhou Petrochemical General Hospital (The Fourth Affiliated Hospital of Gansu University of Chinese Medicine), Lanzhou, Gansu, People’s Republic of China, Email 570177515@qq.com
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.
Keywords: Charcot-Marie-Tooth disease, HSPB1 mutation, HSP27, hereditary neuropathy, axonal degeneration