Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8


rs387907061 in AARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

rs138119149 in AARS2;TMEM151B gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 PMID 27839525 2017 Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 25705216 2015 Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

PMID 29440775 2018 Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.