Condition: Abnormality of the cerebral cortex


rs1556424691 in CYTB;ND6;TRNT gene and Abnormality of the cerebral cortex PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.

PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.