title: Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
abstract: BACKGROUND
  The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995.
  
  
  METHODS
  All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations.
  
  
  RESULTS
  In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described.
  
  
  CONCLUSIONS
  Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients.
authors.affiliation: Department of Neurology, Leiden University Medical Center, P.O. Box 9600, 2300RC, Leiden, The Netherlands.
authors.forename: Chiara S M
authors.initials: CS
authors.lastname: Straathof
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Dave
authors.initials: D
authors.lastname: Van Heusden
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Pieternella F
authors.initials: PF
authors.lastname: Ippel
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Jan G
authors.initials: JG
authors.lastname: Post
authors.affiliation: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Nicol C
authors.initials: NC
authors.lastname: Voermans
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Marianne
authors.initials: M
authors.lastname: De Visser
authors.affiliation: Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
authors.forename: Esther
authors.initials: E
authors.lastname: Brusse
authors.affiliation: Department of Neurology, Leiden University Medical Center, P.O. Box 9600, 2300RC, Leiden, The Netherlands.
authors.forename: Janneke C
authors.initials: JC
authors.lastname: Van Den Bergen
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: Van Der Kooi
authors.affiliation: Department of Neurology, Leiden University Medical Center, P.O. Box 9600, 2300RC, Leiden, The Netherlands.
authors.forename: Jan J G M
authors.initials: JJ
authors.lastname: Verschuuren
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Hendrika B
authors.initials: HB
authors.lastname: Ginjaar
mesh_terms: D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels; C484258:DMD protein, human; D016189:Dystrophin
keywords: Becker muscular dystrophy; DNA; diagnosis; dystrophinopathy; muscle disease