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 language | English |
---|---|
Pages (from-to) | 13-16 |
Number of pages | 4 |
Journal | Neuromuscular Disorders |
Volume | 13 |
Issue number | 1 |
DOIs | |
Publication status | Published - 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