Laura E. Machuca-Tzili

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Type 1 myotonic dystrophy or DM1 (Steinert's disease), which is the commonest muscular dystrophy in adults, has intrigued physicians for over a century. Unusual features, compared with other dystrophies, include myotonia, anticipation, and involvement of other organs, notably the brain, eyes, smooth muscle, cardiac conduction apparatus, and endocrine(More)
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3′ untranslated region of a gene, DMPK and DM2 with a tetranucleotide repeat expansion, CCTG,(More)
Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasting. DM presents in two forms, DM1 and DM2, both of which are caused by nucleotide repeat expansions: CTG in the DMPK(More)
Almost two decades ago, when the Wrst mutations underlying nucleotide expansion disorders were described, no one could have ever suspected that this event would open a door to a great many possibilities for research in human genetics. Indeed, the pathogenic mechanisms and therapeutic implications that have emerged from the study of these diseases are vast(More)
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