GENOTYPING IN A CASE OF CONGENITAL MYOTON IC-DYSTROPHY WITH AN UNUSUAL PEDIGREE

We report a case of congenital myotonic dystrophy (CMD) in which not o nly the mother,but also the paternal familiy is affected by myotonic d ystrophy (DM). Clinical symptoms consisted of poor spontaneous movemen ts, typical facial appearance, respiratory insufficiency attributable to diaphragmatic weakness, feeding difficulties due to impaired gastro intestinal tract motility and poor sucking, joint contractures and thi n ribs. She died at 7 month of age, still ventilated, from aspiration pneumonia. By employing moleculargenetic methods we were able to show that the affected child was not homozygous for the DM gene.