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Jimenez-Jaimez, Juan et al. PLOS ONE.

Jimenez-Jaimez, Juan et al. PLOS ONE. 2016 Apr

Juan Jimenez-Jaimez and colleagues conduct a study to describe the clinical manifestations of the Asn98Ser mutation in CALM2 in two unrelated children in southern Spain with apparently unexplained cardiac arrest/death. They identified a p.Asn98Ser mutation in CALM2 in both cases that affected a highly conserved across species residue, and the location in the protein was adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain, predicting a high pathogenic effect.



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Wellington Regional Genetics Laboratory, Wellington, New Zealand