title: Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy.
abstract: The occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively) is reported in 2 male relatives affected with Duchenne muscular dystrophy, both showing the same haplotype for DNA markers not included in the deleted segment. The 2 different deletions seem to have occurred independently in the same X chromosome. This finding, together with other reports, suggests possibly an increased predisposition to mutations within the DMD locus in some families. Therefore, when dealing with prenatal diagnosis, the investigation on fetal DNA cannot be restricted only to the region in which a mutation was previously identified in the family.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: M
authors.initials: M
authors.lastname: Miorin
authors.forename: L
authors.initials: L
authors.lastname: Vitiello
authors.forename: A
authors.initials: A
authors.lastname: Rampazzo
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D002648:Child; D006239:Haplotypes; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D014960:X Chromosome