Variant: rs118192098 

    present in Gene: TRNK;COX3;COX2;ATP6;ATP8;ND3
    present in Chromosome: MT
    Position on Chromosome: 8344
    Alleles of this Variant: A/G

rs118192098 in TRNK;COX3;COX2;ATP6;ATP8;ND3 gene and Leigh Disease PMID 1678125 1991 Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

PMID 8170567 1993 "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")."

rs118192098 in TRNK;COX3;COX2;ATP6;ATP8;ND3 gene and MELAS Syndrome PMID 1678125 1991 Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

rs118192098 in TRNK;COX3;COX2;ATP6;ATP8;ND3 gene and MERRF Syndrome PMID 12784281 2003 Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

PMID 15164143 2005 A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

PMID 19269823 2009 Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.

PMID 17200493 2007 Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

PMID 18657354 2008 Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.

PMID 17293137 2007 Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

PMID 16551460 2006 Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

PMID 17275787 2007 MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.