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Genetic Mosaicism in Calmodulinopathy.
Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Wren LM, et al. Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27. Circ Genom Precis Med. 2019. PMID: 31454269 Free PMC article.
In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations and to investigate mosaicism in 2 affected families. METHODS: CaM mutations were identified in 4 independent cases by DNA sequencing. …
In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations a …
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L. Jiménez-Jáimez J, et al. PLoS One. 2016 Apr 21;11(4):e0153851. doi: 10.1371/journal.pone.0153851. eCollection 2016. PLoS One. 2016. PMID: 27100291 Free PMC article.
BACKGROUND: Calmodulin 1, 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. ...This affected a highly conserved across species residue, and the location in the protein was adjacent to critical calcium binding loops in …
BACKGROUND: Calmodulin 1, 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. .. …