title: DMD and BMD in the same family due to distinct mutations.
abstract: We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing.
authors.affiliation: Department of Neuromuscular Disorders, National Neurological Institute C. Besta, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: S
authors.initials: S
authors.lastname: Tedeschi
authors.forename: C
authors.initials: C
authors.lastname: Di Blasi
authors.forename: C
authors.initials: C
authors.lastname: Curcio
authors.forename: P
authors.initials: P
authors.lastname: De Leonardis
authors.forename: R
authors.initials: R
authors.lastname: Brugnoni
authors.forename: P
authors.initials: P
authors.lastname: Bernasconi
authors.forename: R
authors.initials: R
authors.lastname: Mantegazza
authors.forename: V
authors.initials: V
authors.lastname: Confalonieri
mesh_terms: D000293:Adolescent; D016189:Dystrophin / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D016189:Dystrophin