Condition: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1


rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID 18055910 2007 Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

PMID 16049925 2005 Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.