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.Resul...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.展开更多
基金Fundamental research general project of local undergraduate universities(part)in Yunnan Province(No.2018FH001-082)Key project of Applied Basic Research Plan of Yunnan Province(No.2018FA010)+2 种基金National Natural Science Foundation of China(No.31571304)Yunnan Training Programme for the advanced Talents of Health and Medical Technology(No.D-2018013)the Scientific and technological talents and platform plan,high-level scientific and technological talents and innovative team selection project-Young and middle-aged academic and technical leaders reserve talent project(No.202005AC160011)。
文摘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.
