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- Title
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.
- Authors
Tarnopolsky, Mark; Kozenko, Mariya; Jones, Kevin
- Abstract
Keywords: developmental delay; genetics; inborn errors of metabolism; mitochondrial disorder; mutation However, given that the c.938A>T variant has already been reported I in trans i with the c.797del mutation in affected siblings confirmed to harbor biallelic I WARS2 i mutations[1], we assumed the c.938A>T was likely inherited by the asymptomatic father; however, we cannot rule out the remote possibility that it arose by spontaneous mutation.
- Subjects
MELAS syndrome; LACTIC acidosis; SEIZURES (Medicine); DISEASES; INBORN errors of metabolism; MITOCHONDRIAL pathology
- Publication
Journal of Child Neurology, 2020, Vol 35, Issue 2, p176
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073819881259