caa a22 4500 469044802 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799614 doi (NATIONALLICENCE)springer-10.1007/BF01799614 Bushby K. Department of Human Genetics, University of Newcastle upon Tyne, 19/20 Claremont Place, NE2 4AA, Newcastle upon Tyne, UK aut Genetic and clinical correlations of Xp21 muscular dystrophy [Elektronische Daten] [K. Bushby] Summary: We have investigated over 100 patients with Xp21 muscular dystrophy, drawing together the results of detailed clinical, genetic and dystrophin investigations. A spectrum of disease severity was confirmed, with the most homogeneous clinical groups being at either end of the spectrum, represented by the typical Duchenne and Becker phenotypes. The groups in between showed clinical heterogeneity, and variability in the genetic and dystrophin results. While an out-of-frame deletion in association with undetectable dystrophin is most likely to predict the most severe phenotype, and increasing abundance of dystrophin is associated generally with a milder clinical course, no value of dystrophin abundance reliably predicts a particular phenotype. However, deletions of the dystrophin gene involving exons 45-47 and 45-48 especially do seem to be consistently associated with the mildest Becker phenotype. Additional factors must play a role in determining the exact clinical course. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 551-564 0141-8955 15:4<551 1992 15 10545 https://doi.org/10.1007/BF01799614 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799614 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Bushby K. Department of Human Genetics, University of Newcastle upon Tyne, 19/20 Claremont Place, NE2 4AA, Newcastle upon Tyne, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 551-564 0141-8955 15:4<551 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer