• Title of article

    Duchenne and Becker muscular dystrophies: an Estonian experience

  • Author/Authors

    Ulvi Astra Talkop، نويسنده , , Tiina Klaassen، نويسنده , , Andres Piirsoo، نويسنده , , Valentin Sander، نويسنده , , Aita Napa، نويسنده , , Ene Essenson، نويسنده , , Jaana Tammur، نويسنده , , Tiina Talvik، نويسنده ,

  • Issue Information
    روزنامه با شماره پیاپی سال 1999
  • Pages
    4
  • From page
    244
  • To page
    247
  • Abstract
    The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.
  • Keywords
    Motor developmental delay , dystrophin , Becker muscular dystrophy , Risk sign , Duchenne Muscular Dystrophy
  • Journal title
    Brain and Development
  • Serial Year
    1999
  • Journal title
    Brain and Development
  • Record number

    494109