The Novel Variant NP_00454563.2 ( p.Glu259Glyfs*77 ) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain.
Ainhoa MezcuaAmalio Ruíz-SalasCarmen Medina-PalomoMaría Robles-MezcuaArancha Díaz-ExpósitoMaría Victoria Ortega-JiménezJuan Ramón Gimeno-BlanesManuel F Jiménez-NavarroJosé Manuel García-PinillaPublished in: Genes (2023)
that has not previously been described and is not present in the control groups associated with ACM. It has incomplete penetrance, a highly variable phenotypic expressivity, and was identified in eight families of our geographical area in Malaga (Andalusia, Spain), suggesting a founder effect in this area and describe the clinical and risk characteristics.