SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease.

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作者： Leonardo Furtado,Freitas ^[1] ; Eduardo Carvalho,Miranda ^[2] ; Thelma Ribeiro,Noce ^[3] ; Aline Pimentel,Amaro ^[4] ; Márcio Luís,Duarte ^[2]

作者单位： McGill University, Department of Radiology, Division of Neuroradiology, Montreal QC, Canada. ^[1] Rede MaterDei de Saúde, Departamento de Neurorradiologia, Belo Horizonte MG, Brazil. ^[2] Rede MaterDei de Saúde, Departamento de Neurologia Infantil, Belo Horizonte MG, Brazil. ^[3] Hospital Felício Rocho, Belo Horizonte MG, Brazil. ^[4] Universidade de Ribeirão Preto, Campus Guarujá, Guarujá SP, Brazil. ^[5]

主题词人类(Humans);突变(Mutation);表型(Phenotype);Leigh病(Leigh Disease);DNA, 线粒体(DNA, Mitochondrial)

DOI 10.1055/s-0043-1772606

PMID 37832600

发布时间 2023-12-05

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准确一般字义偏差语意偏离译文作用小提交