Neuromuscular transmission abnormalities in myotonic dystrophy type 1: a neurophysiological study

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease due to the expansion of an unstable trinucleotide (CTG) repeat in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene, in chromosome 19q.13.3 [1]. It is the most common adult-onset muscular dystrophy [2] with considerable clinical heterogeneity, characterized by muscle weakness, myotonia and systemic manifestations, involving ocular, brain, heart, gastrointestinal, skin, endocrine, and respiratory systems [3].

Source: Clinical Neurology and Neurosurgery - August 28, 2016 Category: Neurosurgery Authors: Francesco Bombelli, Ludovico Lispi, Sandro Costanzi Porrini, Manlio Giacanelli, Chiara Terracciano, Roberto Massa, Antonio Petrucci Source Type: research