Gene: ND1
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Gene: TRNL1
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Gene: ND2
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rs199474658 in
ND1;TRNL1;ND2 gene and
MELAS Syndrome
PMID 1932147 1991 A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
PMID 8280119 1993 Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.
PMID 8111377 1993 A new point mutation associated with mitochondrial encephalomyopathy.
PMID 8265770 1993 Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.
PMID 8786060 1996 Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.