Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
rs141129877
in
EARS2
gene and
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
PMID 22492562
2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
PMID 23008233
2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
PMID 26741492
2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PMID 26780086
2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.