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

doi:10.1016/S0960-8966(02)00192-X

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 journal › Article › peer-review

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	https://doi.org/10.1016/S0960-8966(02)00192-X
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

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10.1016/S0960-8966(02)00192-X

Cite this

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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.",

keywords = "Aberrant splicing, C-terminus-truncated dystrophin, Dystrophinopathy, hyperCKemia",

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AU - Cagliani, R.

AU - Bardoni, A.

AU - Sironi, M.

AU - Fortunato, F.

AU - Prelle, A.

AU - Felisari, G.

AU - Bonaglia, M. C.

AU - D'Angelo, M. G.

AU - Moggio, M.

AU - Bresolin, N.

AU - Comi, G. P.

PY - 2003/1

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N2 - 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.

AB - 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.

KW - Aberrant splicing

KW - C-terminus-truncated dystrophin

KW - Dystrophinopathy

KW - hyperCKemia

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Two dystrophin proteins and transcripts in a mild dystrophinopathic patient

Abstract

Keywords

ASJC Scopus subject areas

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