SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
Arq Neuropsiquiatr
.
2023 Nov;81(11):1020-1021.
doi: 10.1055/s-0043-1772606.
Epub 2023 Oct 13.
Authors
Leonardo Furtado Freitas
1
,
Eduardo Carvalho Miranda
2
,
Thelma Ribeiro Noce
3
4
,
Aline Pimentel Amaro
2
,
Márcio Luís Duarte
5
Affiliations
1
McGill University, Department of Radiology, Division of Neuroradiology, Montreal QC, Canada.
2
Rede MaterDei de Saúde, Departamento de Neurorradiologia, Belo Horizonte MG, Brazil.
3
Rede MaterDei de Saúde, Departamento de Neurologia Infantil, Belo Horizonte MG, Brazil.
4
Hospital Felício Rocho, Belo Horizonte MG, Brazil.
5
Universidade de Ribeirão Preto, Campus Guarujá, Guarujá SP, Brazil.
PMID:
37832600
PMCID:
PMC10689095
DOI:
10.1055/s-0043-1772606
No abstract available
MeSH terms
DNA, Mitochondrial / genetics
Humans
Leigh Disease* / genetics
Mutation / genetics
Phenotype
Substances
DNA, Mitochondrial