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

Virdee, M; Swarnalingam, E; Kozenko, M; Tarnopolsky, M; Jones, K

Virdee, M (reprint author), McMaster Univ, Dept Pediat, Neurol Div, 1280 Main St West, Hamilton, ON L8S 4L8, Canada.

JOURNAL OF CHILD NEUROLOGY, 2019; 34 (12): 778

Abstract

Background: WARS2 encodes a tryptophanyl tRNA synthetase, which is involved in mitochondrial protein synthesis. Biallelic mutations in WARS2 are rare ......

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