Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I


Myotonic dystrophy type I (DM1; Online Mendelian Inheritance in Man® ID 160900) is a hereditary multi-system disorder characterized by myopathic facies, distal muscle wasting, myotonia, bilateral cataract, endocrine and cardiac conduction abnormalities. The prevalence of DM1 in industrialized countries is 3-15/100,000. DM1 follows an autosomal dominant trait and is caused by an expansion of a trinucleotide CTG-repeat in the 3’-untranslated region of the DMPK gene on chromosome 19 [1].


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