Condition: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
rs776679653
in
ISCA1
gene and
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
PMID 28356563
2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
PMID 30105122
2018 Report of the Third Family with
Multiple Mitochondrial Dysfunctions Syndrome 5
Caused by the Founder Variant
p.(Glu87Lys)
in <i>ISCA1</i>.