title: Proximal myotonic myopathy: report on italian families and literature review.
abstract: Despite 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.
authors.affiliation: From the Department of Neurology University of Milan San Diego Hospital San Donato Milan Italy the Department Neurological Clinic University of Pisa Italy.
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: V
authors.initials: V
authors.lastname: Sansone
authors.forename: E
authors.initials: E
authors.lastname: Vitelli
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: G
authors.initials: G
authors.lastname: Siciliano