Novel NARS2 variant causing leigh syndrome with normal lactate levels.
Hum Genome Var
; 9(1): 12, 2022 May 04.
Article
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| MEDLINE
| ID: mdl-35508527
ABSTRACT
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 NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh syndrome.
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2022
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Article