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>.