Mosaic Expression of Dystrophin in Symptomatic Carriers of Duchenne's Muscular Dystrophy
- 19 January 1989
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 320 (3), 138-142
- https://doi.org/10.1056/nejm198901193200302
Abstract
A deficiency of the protein dystrophin is known to be the cause of Duchenne's muscular dystrophy. To examine the expression of dystrophin in symptomatic female carriers of this X-linked recessive disorder, we performed immunohistochemical studies on muscle-biopsy specimens from three such carriers, using an antiserum raised against a synthetic peptide fragment of dystrophin.Keywords
This publication has 17 references indexed in Scilit:
- Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular DystrophyNew England Journal of Medicine, 1988
- The complete sequence of dystrophin predicts a rod-shaped cytoskeletal proteinCell, 1988
- Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNAAmerican Journal of Medical Genetics, 1988
- Fast muscle fibers are preferentially affected in Duchenne muscular dystrophyCell, 1988
- Negative immunostaining of Duchenne muscular dystrophy(DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA.Proceedings of the Japan Academy, Series B, 1988
- Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detectionMuscle & Nerve, 1985
- Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cellsAnnals of Neurology, 1984
- The manifesting carrier in Duchenne muscular dystrophyClinical Genetics, 1974
- Muscle Histology in Carriers of Duchenne Muscular DystrophyJournal of Medical Genetics, 1965
- Myopathic changes in a muscular dystrophy carrierJournal of Neurology, Neurosurgery & Psychiatry, 1963