Condition: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME


rs1131690799 in SERAC1 gene and 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME PMID 25016221 2014 Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

PMID 28778788 2018 Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.

PMID 22683713 2012 Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

PMID 23707711 2014 Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

PMID 28482397 2017 [MEGDEL syndrome with an SERAC1 mutation: a case report].