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Biallelic Variants in HTRA2 Cause 3-Methylglutaconic Aciduria Mitochondrial Disorder: Case Report and Literature Review

Umamaheswaran Gurusamy,Swetha Ramadesikan,Mohammad Marhabaie, Caitlyn M. Colwell,Jesse M. Hunter,Marco L. Leung,Elaine R. Mardis,Peter White, Murugu Manickam,Richard K. Wilson,Daniel C. Koboldt

Frontiers in Genetics（2024）

Cited 0|Views27
Key words
leigh syndrome,HtrA2,mitochondrial disease,trio-whole exome sequencing,compound heterozygous,MGCA8,3-MGA,autosomal recessive inheritance
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