CLPP

Publications

Ahmed S et al. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. J Neurol Sci. 2015;353(1-2):149–154. PMID: 25956234.

Dursun F et al. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. J Clin Res Pediatr Endocrinol. 2016;8(4):472-477.  PMID: 27087618.

Demain L A et al. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet. 2017;91(2):302-312. PMID: 26970254.

Jenkinson E M et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013;92(4):605-613. PMID: 23541340.

Newman W G et al. Perrault Syndrome. In: Adam M P et al. (eds.) GeneReviews. Seattle (WA). 2014(Updated 2018). PMID: 25254289.

Theunissen T E et al. Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. Front Neurol. 2016;7:203. PMID: 27899912.