caa a22 4500 397575807 CHVBK 20180308164856.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.973 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.973 A Cysteine 3340 Substitution in the Dystroglycan-Binding Domain of Dystrophin Associated with Duchenne Muscular Dystrophy, Mental Retardation and Absence of the ERG b-Wave [Elektronische Daten] [Uwe Lenk, Konrad Oexle, Thomas Voit, Ulrike Ancker, Karl-Anton Hellner, Astrid Speer, Christoph Hübner] We report the first C-terminal missense mutation in a Duchenne muscular dystrophy patient. A G10227A transition of the dystrophin gene was found which resulted in the substitution of a highly conserved cysteine at position 3340 within the second half of the dystroglycan-binding domain. Residual amounts of 427 kDa dystrophin were detected in western blot analysis of the patient's muscle tissue, and immunohistological examination revealed weak traces of dystrophin on all fibers. Sarcolemmal staining intensity of 43 kDa β-dystroglycan was also reduced. Mental retardation in our patient and absence of the b-wave in his electroretinogram indicate that central nervous functions of dystrophin isoforms also depend on the presence of cysteine 3340. © 1996 Oxford University Press Lenk Uwe Max-Delbrück-Centrum für Molekulare Medizin, 13122 Berlin, Germany aut Oexle Konrad Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt Universität, 13353 Berlin, Germany aut Voit Thomas Kinderklinik, Universität Essen, 45122 Essen, Germany aut Ancker Ulrike Kinderklinik, Universitäts-Krankenhaus Eppendorf, 20246 Hamburg, Germany aut Hellner Karl-Anton Ophthalmologische Klinik, Universitäts-Krankenhaus Eppendorf, 20246 Hamburg, Germany aut Speer Astrid Klinik für Innere Medizin I, Charité, Humboldt Universität, 10098 Berlin, Germany aut Hübner Christoph Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt Universität, 13353 Berlin, Germany aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 973-975 0964-6906 5:7<973 1996 5 hmg https://doi.org/10.1093/hmg/5.7.973 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.973 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lenk Uwe Max-Delbrück-Centrum für Molekulare Medizin, 13122 Berlin, Germany aut NATIONALLICENCE 700 1- Oexle Konrad Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt Universität, 13353 Berlin, Germany aut NATIONALLICENCE 700 1- Voit Thomas Kinderklinik, Universität Essen, 45122 Essen, Germany aut NATIONALLICENCE 700 1- Ancker Ulrike Kinderklinik, Universitäts-Krankenhaus Eppendorf, 20246 Hamburg, Germany aut NATIONALLICENCE 700 1- Hellner Karl-Anton Ophthalmologische Klinik, Universitäts-Krankenhaus Eppendorf, 20246 Hamburg, Germany aut NATIONALLICENCE 700 1- Speer Astrid Klinik für Innere Medizin I, Charité, Humboldt Universität, 10098 Berlin, Germany aut NATIONALLICENCE 700 1- Hübner Christoph Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt Universität, 13353 Berlin, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 973-975 0964-6906 5:7<973 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford