DMD and BMD in the same family due to two distinct mutations

L. Morandi, M. Mora, S. Tedeschi, C. Di Blasi, C. Curcio, P. De Leonardis, R. Brugnoni, P. Bernasconi, R. Mantegazza, V. Confalonieri, F. Cornelio

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)501-505
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume59
Issue number4
DOIs
Publication statusPublished - 1995

Keywords

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • dystrophin gene analysis
  • dystrophin immunochemical analysis
  • genetic counseling

ASJC Scopus subject areas

  • Genetics(clinical)

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