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  • Proceedings
    Symposium on Update in Neurogenetics (1996 ; Ljubljana); Dr. Janez Faganel Memorial Lecture (12 ; 1996 ; Ljubljana)
    At the protein level DMD is defined by a marked dystrophin deficiency, and BMD by abnormal molecular weight of dystrophin and/or reduction in dystrophin abudance. The classical clinical criterion of ... age at the onset of wheelchair dependence was used for classifying patients as DMD, intermediate DMD/BMD. The main purpose of this study was to investigate how the results of dystrophin analysis are related with the clinical classification. Antibodies against N-terminus, rod domain and C-terminus of dystrophin were used for immunohistochemical analysis, and antibodies against C-terminus for immunochemical analysis of dystrophin. In this study 3 DMD, 3 intermediate DMD/BMD and 3 BMD patients were analysed dystrophin analysis. Seven patients were too young to be classified clinicaly. For all DMD cases the diagnosis was established by immunohistochemical analysis of dystrophin. For the diagnosis of BMD the immunoblot was required in those cases, where imimunohistochemical analysis revealed only mild abnormalities. The preservation of C-terminus of dystrophin was related to BMD in 3 patients. The absence of C-terminus of dystrophin was in 3/6 patients who were whelechair bound related to DMD/BMD. In prognosis for 7 patients with the absent C-terminus, who were too young to be classified clinically, we presume that some of them might be ambulatory up to the age of 15 years. In 2/3 intermediate DMD/BMD patients a peculiar type of immunohistochemical pattern was detected: the absent C-terminus was found in combination with immunoreactity to rod domain and a faint immunoreactivity to the N-terminus. Our results, although on the limited number of patients, show that the absence of C-terminus was related to the age of the onset of wheelchair dependence up to 15 years. Finding that DMD and intermediate DMD/BMD patients have similar abnormalities at the protein level, it is very likely, that we are dealing with one phenotype only.(Abstract truncated)
    Vrsta gradiva - zbornik ; neleposlovje za odrasle
    Založništvo in izdelava - [Ljubljana] : University Institute of Clinical Neurophysiology, [1996]
    Jezik - angleški
    COBISS.SI-ID - 65046528

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