Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. [electronic resource]
Producer: 20181226Description: 537-551 p. digitalISSN:- 1476-5438
- Alanine-tRNA Ligase -- genetics
- Cardiomyopathies -- diagnosis
- Carrier Proteins -- genetics
- DNA, Mitochondrial -- genetics
- Developmental Disabilities -- diagnosis
- Female
- Fetus
- Humans
- Infant
- Male
- Mitochondrial Diseases -- diagnosis
- Mutation
- Nitrogenous Group Transferases -- genetics
- Oxidative Phosphorylation
- Pedigree
- RNA-Binding Proteins
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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