METHODS: A 49-year-old male patient was admitted to the hospital with a 15-month history of proximal weakness and muscle atrophy in both upper limbs. His other symptoms and signs were not obvious.
METHODS: Gene test results indicated that there were duplication mutations in the exon 7 to 8 region of the SMN1 gene.
CONCLUSIONS: The abnormal duplication of exons 7 and 8 of the SMN1 gene in this patient may increase the risk of FAS. Further studies are needed to identify the dominant genes and genetic factors causing males to be susceptible to FAS.
方法:一名49岁男性患者入院,有15个月的上肢近端无力和肌肉萎缩病史。其他症状和体征不明显。
方法:基因检测结果表明SMN1基因外显子7~8区存在重复突变。
结论:该患者SMN1基因外显子7和8的异常重复可能会增加FAS的风险。需要进一步的研究来确定导致男性易感FAS的显性基因和遗传因素。