A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular
challenges for both medical care and design of clinical trials. Clinical onset spans a …

Abstract Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG
expansion in the non-translating region of the dystrophia myotonica protein kinase gene …

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart
dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting …

Abstract Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease with
multisystemic involvement including the central nervous system. The evolution of the …

Aim To investigate the psychiatric and cognitive phenotype in young individuals with the
childhood form of myotonic dystrophy type 1 (DM1). Method Twenty‐eight individuals (15 …

Objective To genotypically and phenotypically characterize a large pediatric myotonic
dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based …

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …

Antecedentes y objetivos La enfermedad de Steinert o distrofia miotónica tipo 1
(DM1),(OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad …