%0 Journal Article
%T A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0050-1
%X Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese patient with LS and identified the patient as a compound heterozygote for a novel variant of ECHS1, consisting of NM_004092.4:c.23T>C (p.Leu8Pro) and NM_004092.4:c.176A>G (p.Asn59Ser)
%U https://www.nature.com/articles/s41439-019-0050-1