The aim of this study is to describe the essential characteristics of a family affected by the newly-described proximal myotonic myopathy (PROMM). The clinical, laboratory and genetic findings are described and compared with those reported in the literature, and the clinical spectrum of the manifestations that are similar to but distinct from myotonic dystrophy (MD) is also explored. This has practical implications because the cases so far described suggest that the long-term prognosis of patients with PROMM seems to be more favourable than that of patients with MD.
|Titolo:||A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature|
|Parole Chiave:||Ion channel disorders; Myotonia; Myotonic dystrophy; Trinucleotide expansion|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||ott-1996|
|Appare nelle tipologie:||01 - Articolo su periodico|