Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy


ULGENALP A., GIRAY O., BORA E., HIZLI T., KURUL S. , SAGIN-SAYLAM G., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.46, ss.333-338, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 46 Konu: 4
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.333-338

Özet

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.