HIGHLIGHTS
- who: Ryosuke Tanaka from the Department Medical University Hospital, Asahikawa, Japan have published the research work: Novel NARS2 variant causing leigh syndrome with normal lactate levels, in the Journal: (JOURNAL) of 26/02/2022
SUMMARY
To reveal the underlying genetic etiology of Leigh syndrome, WES analysis was conducted for the patient and her asymptomatic parents after written informed consent was obtained from her parents. WES analysis revealed that the patient harbored compound heterozygous variants in NARS2, with a paternally inherited NM_024678:c.731 C > G (p.Ala244Gly) variant and a maternally inherited NM_024678 . . .
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