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Article

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

Neurologia - 1 Oct 2023

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

Abstract excerpt

INTRODUCTION: 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 correlation). METHODS: Retrospective, descriptive study of 459 patients classified according to the number...

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PMID: 37437658
DOI: 10.1016/j.nrleng.2023.07.001

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