title: Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.
abstract: We report the clinical and molecular study of three unrelated homozygous myotonic dystrophy patients. In the first family, the homozygous patient shows the classical form of the disease with two DM alleles of very different expansion sizes (1000 and 60 repeats). In the second family, the homozygous patient is mildly affected and carries a minimally expanded allele (64 repeats) and a "normal" allele (38 repeats) that increases in size when transmitted. Such an intergenerational expansion of an allele in this range of repeats has not been reported to date. The third homozygous case has late onset bilateral cataracts as the only symptom. She has two minimally expanded alleles (51 and 120 repeats) that showed different intergenerational enlargement during transmission to the next generation.
authors.affiliation: Unitat de Genètica Molecular, Hospital Sant Pau, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Martorell
authors.forename: I
authors.initials: I
authors.lastname: Illa
authors.forename: J
authors.initials: J
authors.lastname: Rosell
authors.forename: J
authors.initials: J
authors.lastname: Benitez
authors.forename: M J
authors.initials: MJ
authors.lastname: Sedano
authors.forename: M
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015139:Blotting, Southern; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction