Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation

• Published in: Neurología (Barcelona, English ed. ) Vol. 38; no. 8; pp. 530 - 540
• Main Authors: Sánchez Marín, J.P., Sienes Bailo, P., Lahoz Alonso, R., Capablo Liesa, J.L., Gazulla Abio, J., Giménez Muñoz, J.A., Modrego Pardo, P.J., Pardiñas Barón, B., Izquierdo Álvarez, S.
• Format: Journal Article
• Language: English
• Published: Spain Elsevier España, S.L.U 01.10.2023
• Subjects: CTG; DMPK; Enfermedad de Steinert; Incidence; Incidencia; Protomutación; Protomutation; Steinert disease; TP-PCR; Protomutation; DMPK; Protomutación; CTG; TP-PCR; Enfermedad de Steinert; Incidencia; Steinert disease; Incidence

The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correl...