Two cases of myotonic dystrophy of uncertain genetic classification

Giovanni Pauletti, Ospedale G.B. Grassi
Francesca Muzzi, Ospedale G.B. Grassi
Lorenzo Sinibaldi, Ospedale G.B. Grassi
Andrea Gentile, Ospedale G.B. Grassi
Giovanni Mancini, Ospedale G.B. Grassi
Luigi Sinibaldi, Ospedale G.B. Grassi


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.