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.