期刊
JOURNAL OF CHILD NEUROLOGY
卷 29, 期 10, 页码 NP105-NP110出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073813506783
关键词
ND3; Leigh syndrome; m; 10191T > C; mitochondria; complex I deficiency
资金
- National Institutes of Health [HD032062]
- Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF)
We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation.
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