| Autor: |
Wen-Wu Li, Li-Fan Huang, Xiao-Chao Zhang, Zhi-Hong Li, Xiao-Qin Huang, Hao Sun |
| Předmět: |
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| Zdroj: |
Journal of Hainan Medical University; Apr2021, Vol. 27 Issue 8, p61-63, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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