Gene: ATP6

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Gene: ATP8

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Gene: ND4L

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Gene: ND3

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Gene: COX3

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Gene: ND4

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rs794726857 in ATP6;ATP8;ND4L;ND3;COX3;ND4 gene and MELAS Syndrome PMID 25037980 2014 Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

PMID 27812026 2016 Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

PMID 29350304 2018 Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.