Article
Myotonic dystrophy in a large Sicilian kinship: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Aug 1995
Trifiletti R, Parano E, Falsaperla R, Incorpora G
Abstract excerpt
A large Sicilian kinship in which myotonic dystrophy (DM) affected spanning four generations is presented. The pedigree clearly illustrates the phenomenon of anticipation, and illustrates that this phenomenon is more marked when transmission occurs through an affected female rather than an affect...
Topics
- Adult
- Atrophy
- Brain
- Cerebral Ventricles
- Child, Preschool
- Female
- Follow-Up Studies
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Myotonic Dystrophy
- Neurologic Examination
- Pedigree
- Phenotype
- Sicily