Condition: 3-methylglutaconic aciduria type 7


rs144078282 in CLPB gene and 3-methylglutaconic aciduria type 7 PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

PMID 28687938 2017 A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.

PMID 25597511 2015 CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

PMID 25595726 2015 Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

PMID 26916670 2016 Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

PMID 25650066 2015 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.