caa a22 4500 46576794X CHVBK 20180323111920.0 cr unu---uuuuu 170327e19900701xx s 000 0 eng 10.1007/BF00294640 doi (NATIONALLICENCE)springer-10.1007/BF00294640 Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy [Elektronische Daten] [L. Nicholson, M. Johnson, D. Gardner-Medwin, S. Bhattacharya, J. Harris] Summary: This report documents the results of an integrated biochemical and immunocytochemical investigation into the expression of dystrophin (the protein product of the Duchenne muscular dystrophy gene) in muscle biopsies from 226 patients. It is the first study in which dystrophin has been analysed on blots and on tissue sections in such a large number of patients using the same (monoclonal) antibody. The 140 patients with Xp21 muscular dystrophy who were included in this study represent a continuous spectrum of disease severity and this range was reflected in the heterogeneity of dystrophin expression which was observed with respect to abundance, size and the pattern of tissue localisation. Approximately 40% of biopsies obtained from patients diagnosed as having Duchenne muscular, dystrophy (DMD) contained isolated clearly positive fibres and a further 20% had very weak labelling on a large number of fibres. Biopsies from patients with Becker muscular dystrophy (BMD) showed labelling patterns which varied from weak labelling on the majority of fibres to clear labelling on all fibres. Typically, however, there was inter-and intra-fibre variation in labelling intensity. Approximately 85% of the 52 BMD and 54 DMD patients who had unequivocal labelling on blots demonstrated a protein of abnormal size. The remaining 15% had a protein of normal size but reduced abundance. Overall, the estimated abundance of dystrophin correlated well with clinical assessments of the disease severity expressed in patients: We conclude that dystrophin analysis is an essential and dependable technique for the differential diagnosis of patients with Xp21 muscular dystrophy. Springer-Verlag, 1990 Dystrophin nationallicence Duchenne muscular dystrophy nationallicence Becker muscular dystrophy nationallicence Muscle proteins nationallicence Nicholson L. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut Johnson M. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut Gardner-Medwin D. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut Bhattacharya S. Department of Human Genetics, University of Newcastle upon Tyne, NE2 4HH, Newcastle-upon-Tyne, Great Britain aut Harris J. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut Acta Neuropathologica Springer-Verlag 80/3(1990-07-01), 239-250 0001-6322 80:3<239 1990 80 401 https://doi.org/10.1007/BF00294640 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00294640 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nicholson L. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut NATIONALLICENCE 700 1- Johnson M. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut NATIONALLICENCE 700 1- Gardner-Medwin D. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut NATIONALLICENCE 700 1- Bhattacharya S. Department of Human Genetics, University of Newcastle upon Tyne, NE2 4HH, Newcastle-upon-Tyne, Great Britain aut NATIONALLICENCE 700 1- Harris J. Muscular Dystrophy Group Research Laboratories, Regional Neurological Centre, Newcastle General Hospital, NE4 6BE, Newcastle-upon-Tyne, Great Britain aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 80/3(1990-07-01), 239-250 0001-6322 80:3<239 1990 80 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer