Condition: Increased CSF lactate
rs1556424691 in
CYTB;ND6;TRNT gene and
Increased CSF lactate
PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.
PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.
PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.