Condition: Multiple Mitochondrial Dysfunctions Syndrome


rs776679653 in ISCA1 gene and Multiple Mitochondrial Dysfunctions Syndrome PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs730882246 in ISCA2;NPC2 gene and Multiple Mitochondrial Dysfunctions Syndrome PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.