Article

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh syndrome with severe complex I deficiency

2022-07-08

Abstract excerpt

Leigh syndrome (LS) is one of the most common mitochondrial disease subtypes, caused by mutations in either the nuclear or mitochondrial genomes. TMEM126B was identified as a mitochondrial complex I assembly factor. Here, we identified a novel intronic mutation (c.82-2A>G) and a novel exonic insertion mutation (c.290dupT) in TMEM126B from a Chinese patient with clinical manifestations of LS. In silico prediction...

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Literature Corpus work: 514601be-171c-5ab0-97a8-d1b2ac7bc51f
DOI: 10.22541/au.165726730.00444817/v1

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