Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase. [electronic resource]
Producer: 20200914Description: 778-781 p. digitalISSN:- 1708-8283
- Acidosis, Lactic -- diagnosis
- Brain -- diagnostic imaging
- Child
- Dyskinesias -- diagnosis
- Female
- Humans
- Magnetic Resonance Imaging
- Mitochondria -- genetics
- Neurodevelopmental Disorders -- diagnosis
- Phenotype
- Seizures -- diagnosis
- Syndrome
- Tryptophan-tRNA Ligase -- genetics
- White Matter -- diagnostic imaging
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Publication Type: Case Reports; Journal Article
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