Due casi di distrofia miotonica di difficile inquadramento genetico

Translated title of the contribution: Two cases of myotonic dystrophy of uncertain genetic classification

Giovanni Pauletti, Francesca Muzzi, Lorenzo Sinibaldi, Andrea Gentile, Giovanni Mancini, Luigi Sinibaldi

Research output: Contribution to journalArticlepeer-review

Abstract

We present two cases of clinically well defined myotonic dystrophy. One of the two patients (male, 27 years old) was also affected by partial complex epilepsy. The other patient was male, 40 years old. In both patients EMG studies were consistent with the diagnosis, but genetic studies reveales no typical CTG triplet expansion in chromosome 19. Other form of myotonic dystrophies (PROMM, PDM) linked in chromosome 3; other forms are not linked to either chromosomal site. We discuss the possible attribution of our patients at one of the previous forms.

Translated title of the contributionTwo cases of myotonic dystrophy of uncertain genetic classification
Original languageItalian
Pages (from-to)247-249
Number of pages3
JournalRivista di Neurobiologia
Volume46
Issue number4
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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