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.