Gene: ND2
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Gene: ND1
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Gene is located in Chromosome:
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Gene: TRNL1
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Gene is located in Chromosome:
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rs193303018 in
ND2;ND1;TRNL1 gene and
MELAS Syndrome
PMID 22781753 2012 Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
PMID 15870203 2005 Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
PMID 19460299 2009 Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.
PMID 8132749 1994 Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
PMID 8210299 1993 Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.
PMID 7520241 1994 A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).