Condition: Neuropathy ataxia and retinis pigmentosa


rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and Neuropathy ataxia and retinis pigmentosa PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 1539598 1992 Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

PMID 8190310 1994 A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

PMID 2137962 1990 A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

PMID 8095070 1993 Maternally inherited Leigh syndrome.