Condition: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4


rs730882246 in ISCA2;NPC2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

rs767352340 in NPC2;ISCA2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 29359243 2018 Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.