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.