期刊
JOURNAL OF PEDIATRICS
卷 171, 期 -, 页码 313-+出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2015.12.060
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资金
- Government of Canada through Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute [OGI-049]
- Genome Quebec
- Genome British Columbia
- McLaughlin Center
- Population Diagnostics and Younique Genomics
- Lineagen
- Athena
- GlaxoSmithKline
We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.
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