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EnglishMyotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n expansion in ZNF9/CNBP. When transcribed into CUG/CCUG-containing RNA, mutant transcripts aggregate as nuclear foci that sequester RNA-binding proteins, resulting in spliceopathy of downstream effector genes. However, it is now clear that additional pathogenic mechanism like changes in gene expression, protein translation and micro-RNA metabolism may also contribute to disease pathology. Despite clinical and genetic similarities, DM1 and DM2 are distinct disorders requiring different diagnostic and management strategies. This review is an update on the recent advances in the understanding of the molecular mechanisms behind myotonic dystrophies.
Myotonic dystrophies : an update on clinical aspects, genetic, pathology, and molecular pathomechanisms / G. Meola, R. Cardani. - In: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE. - ISSN 0925-4439. - 1852:4(2015 Apr), pp. 594-606.
| Titolo: | Myotonic dystrophies : an update on clinical aspects, genetic, pathology, and molecular pathomechanisms |
| Autori: | MEOLA, GIOVANNI (Primo) CARDANI, ROSANNA (Ultimo) |
| Parole Chiave: | Clinical finding; Molecular mechanism; Muscle biopsy; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Pathology |
| Settore Scientifico Disciplinare: | Settore MED/26 - Neurologia Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica |
| Data di pubblicazione: | apr-2015 |
| Rivista: | |
| Tipologia: | Article (author) |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.bbadis.2014.05.019 |
| Appare nelle tipologie: | 01 - Articolo su periodico |
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