caa a22 4500 467984271 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208944 doi (NATIONALLICENCE)springer-10.1007/BF00208944 A normal male with an inherited deletion of one exon within the DMD gene [Elektronische Daten] [Magnus Nordenskjöld, Louise Nicholson, Lars Edström, Maria Anvret, Maria Eiserman, Clarke Slater, Lisa Stolpe] Summary: We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy. Springer-Verlag, 1990 Nordenskjöld Magnus Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut Nicholson Louise Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Westgate Road, NE46BE, Newcastle upon Tyne, UK aut Edström Lars Department of Neurology, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut Anvret Maria Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut Eiserman Maria Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut Slater Clarke Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Westgate Road, NE46BE, Newcastle upon Tyne, UK aut Stolpe Lisa Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut Human Genetics Springer-Verlag 84/2(1990-01-01), 207-209 0340-6717 84:2<207 1990 84 439 https://doi.org/10.1007/BF00208944 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208944 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nordenskjöld Magnus Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Nicholson Louise Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Westgate Road, NE46BE, Newcastle upon Tyne, UK aut NATIONALLICENCE 700 1- Edström Lars Department of Neurology, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Anvret Maria Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Eiserman Maria Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 700 1- Slater Clarke Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Westgate Road, NE46BE, Newcastle upon Tyne, UK aut NATIONALLICENCE 700 1- Stolpe Lisa Department of Clinical Genetics, Karolinska Hospital, P. O. Box 60500, S-10401, Stockholm, Sweden aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 207-209 0340-6717 84:2<207 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer