Data di Pubblicazione:
2003
Citazione:
Two dystrophin proteins and transcripts in a mild dystrophinopathic patient / R. Cagliani, A. Bardoni, M. Sironi, F. Fortunato, A. Prelle, G. Felisari, M. Bonaglia, M. D'Angelo, M. Moggio, N. Bresolin, G. Comi. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 13:1(2003), pp. 13-16.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
dystrophinopathy; HyperCKemia; aberrant splicing; C-terminus-truncated dystrophin
Elenco autori:
R. Cagliani, A. Bardoni, M. Sironi, F. Fortunato, A. Prelle, G. Felisari, M. Bonaglia, M. D'Angelo, M. Moggio, N. Bresolin, G. Comi
Link alla scheda completa: