Two dystrophin proteins and transcripts in a mild dystrophinopathic patient

R. Cagliani, A. Bardoni, M. Sironi, F. Fortunato, A. Prelle, G. Felisari, M. C. Bonaglia, M. G. D'Angelo, M. Moggio, N. Bresolin, G. P. Comi

Research output: Contribution to journalArticle

Abstract

Two muscle dystrophin transcripts and proteins were detected in a 17-year-old boy with a persistently elevated serum creatine kinase level. A decreased amount of full-length dystrophin and a 360 kDa polypeptide lacking the COOH-terminus were detectable in the patient's muscle biopsy; accordingly, transcript analysis revealed the expression of a wild type messenger RNA together with a shorter frameshifted one. No genomic DNA mutation was found and the presence of a somatic mosaicism was excluded. This dystrophinopathy may be caused by a novel dystrophin gene transcriptional defect, namely aberrant intraexonic splicing.

Original languageEnglish
Pages (from-to)13-16
Number of pages4
JournalNeuromuscular Disorders
Volume13
Issue number1
DOIs
Publication statusPublished - Jan 2003

Keywords

  • Aberrant splicing
  • C-terminus-truncated dystrophin
  • Dystrophinopathy
  • hyperCKemia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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