Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26825290.
- Also identified by DOI 10.1016/j.jpeds.2015.12.060.
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Abstract
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.
Medical subject headings
- GTP Phosphohydrolases
- Microtubule-Associated Proteins
- Mitochondrial Diseases
- Mitochondrial Dynamics
- Mitochondrial Proteins
- Mutation