Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
Jorge Alonso-PérezJuan Carlos de León HernándezHelena Pérez-PérezMaría Dolores Mendoza-GrimónAntonio José Gutierrez-MartinezIoanna HadjigeorgiouFernando Montón-ÁlvarezLidia González-QueredaAlicia Alonso-JiménezXavier Suárez-CalvetJordi Díaz-ManeraPublished in: European journal of neurology (2022)
Nearly 95% of patients with OPMD from the Canary Islands harbored the (GCN)15 expanded allele supporting a potential founder effect. Disease progression seemed to be milder in the (GCN)15 OPMD Canary cohort than in other cohorts with shorter expansions suggesting that other factors, apart from the expansion size, could be involved in the progression of the disease.