Two cases of myotonic dystrophy of uncertain genetic classification
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.
This paper has been withdrawn.