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Updated: May 11, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Two mutations in one dystrophin gene.

Janusz Zimowski1, Elżbieta Fidziańska, Mariola Holding

  • 1Zakład Genetyki, Instytut Psychiatrii i Neurologii w Warszawie, Polska. zimowski@ipin.edu.pl

Neurologia I Neurochirurgia Polska
|May 8, 2013
PubMed
Summary

This study reports a rare occurrence of two pathogenic mutations in a single dystrophin gene allele in Duchenne/Becker muscular dystrophy (DMD/BMD) families. Documenting these dual mutations offers insights into genetic variations causing severe muscle deterioration.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Duchenne/Becker muscular dystrophies (DMD/BMD) result from progressive muscle deterioration due to mutations in the dystrophin gene.
  • Mutations include deletions (60%), duplications (10%), and point mutations (30%).

Purpose of the Study:

  • To document the rare occurrence of two pathogenic mutations (deletions or duplications) within a single allele of the dystrophin gene.
  • To analyze the clinical impact and genetic characteristics of combined mutations.

Main Methods:

  • Screening of DNA from 1364 DMD/BMD families.
  • Utilized PCR-multiplex and multiplex ligation-dependent probe amplification (MLPA) for mutation detection.

Main Results:

  • Identified two families with dual mutations: one with two deletions and another with two duplications in the dystrophin gene.
  • Both dual-mutation cases presented with severe Duchenne muscular dystrophy phenotype.
  • Prenatal diagnosis revealed carriership of dual duplications in a female fetus.

Conclusions:

  • The combined occurrence of two mutations in one dystrophin gene allele was found in 0.3% (2/722) of analyzed DMD/BMD families.
  • This study presents a rare phenomenon of non-contiguous deletions and duplications, adding to 31 previously reported cases.