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Novel NARS2 variant causing leigh syndrome with normal lactate levels

Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in...

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Detalles Bibliográficos
Autores principales:	Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068749/ https://www.ncbi.nlm.nih.gov/pubmed/35508527 http://dx.doi.org/10.1038/s41439-022-00191-z

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