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. (C) 2002 Elsevier Science B.V. All rights reserved.
Cagliani, R., Bardoni, A., Sironi, M., Fortunato, F., Prelle, A., Felisari, G., et al. (2003). Two dystrophin proteins and transcripts in a mild dystrophinopathic patient. NEUROMUSCULAR DISORDERS, 13(1), 13-16 [10.1016/S0960-8966(02)00192-X].
Two dystrophin proteins and transcripts in a mild dystrophinopathic patient
Sironi M;
2003
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. (C) 2002 Elsevier Science B.V. All rights reserved.
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