Human Genome Variation

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A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
Human Genome Variation - Tập 6 Số 1
Shumpei Uchino, Aritoshi Iida, Atsushi Sato, Keiko Ishikawa, Masakazu Mimaki, Ichizo Nishino, Yu‐ichi Goto
AbstractLeigh 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 hete... hiện toàn bộ
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