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.

Tarnopolsky, Mark; Kozenko, Mariya; Jones, Kevin

Tarnopolsky, Mark; Kozenko, Mariya; Jones, Kevin.

Afiliação

Tarnopolsky M; Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Kozenko M; Genetics Division, Department of Pediatrics, McMaster University, Ontario, Canada.
Jones K; Neurology Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

J Child Neurol ; 35(2): 176-177, 2020 02.

Article em En | MEDLINE | ID: mdl-31684799

Assuntos

Acidose Láctica; Discinesias; Transtornos do Neurodesenvolvimento; Humanos; Fenótipo; RNA de Transferência; Convulsões

Palavras-chave

developmental delay; genetics; inborn errors of metabolism; mitochondrial disorder; mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Discinesias / Transtornos do Neurodesenvolvimento Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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