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EnglishDespite the more recent genetic classification of the novel myotonic dystrophies into at least two distinct myotome dystrophy (DM) loci (DM1, DM2/PROMM/PDM), the clinical characteristics of these dominant myotonic syndromes often blur. The multisystemic nature of these disorders leads to a spectrum of symptoms and signs th.it emphasize the similarities and differences between these diseases. This review focuses en the clinical, laboratory, and genetic findings in 3q-linked and unlinked Italian families with proximal myotonic myopathy (PROMM). From a neuromuscular and cardiac point of view, we present follow-up data fom 25 patients studied serially over a 6-year period. We also present data on central nervous system involvement following neuropsychologic arid neuroimaging studies in this same period of time.
| Autori interni: | |
| Autori: | Meola G; Sansone V; Vitelli E; Mancuso M; Siciliano G |
| Titolo: | Proximal myotonic myopathy: report on italian families and literature review. |
| Anno del prodotto: | 2001 |
| Digital Object Identifier (DOI): | 10.1097/00131402-200106000-00007 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
http://hdl.handle.net/11568/68870
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