Condition: COENZYME Q10 DEFICIENCY, PRIMARY, 7
rs141303335 in
COQ4 gene and
COENZYME Q10 DEFICIENCY, PRIMARY, 7
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
rs767839639 in
COQ4;TRUB2 gene and
COENZYME Q10 DEFICIENCY, PRIMARY, 7
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
rs1554796655 in
TRUB2;COQ4 gene and
COENZYME Q10 DEFICIENCY, PRIMARY, 7
PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.