Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

Chun Che Chu, Hung Chou Kuo, Tu Hsueh Yeh, Long Sun Ro, Shyue Ru Chen, Chin Chang Huang

研究成果: 雜誌貢獻文章同行評審

19 引文 斯高帕斯(Scopus)

摘要

Objectives: Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood. Purposes: To report the correlation between the clinical features and genetic analysis of DMRV patients. Patients and methods: The clinical presentations, histopathological findings, image studies, and genetic analyses of two patients with DMRV from a Taiwanese family were studied. Results: Two compound heterozygous mutations, Ile 241 Ser and Arg 246 Gln, located in the epimerase domain, were identified in both patients, who were of the same generation. In addition, the elder sister showed a progressive muscular dystrophy course with severe quadriceps and trunk muscle involvement. Conclusion: The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV. However, the mechanisms leading to this phenotypic heterogeneity still remain to be elucidated.
原文英語
頁(從 - 到)250-256
頁數7
期刊Clinical Neurology and Neurosurgery
109
發行號3
DOIs
出版狀態已發佈 - 4月 2007
對外發佈

ASJC Scopus subject areas

  • 神經病學(臨床)
  • 手術
  • 神經內科

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