caa a22 4500 39757469X CHVBK 20180308164852.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.1963 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.1963 The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies [Elektronische Daten] [M. Vainzof, M. R. Passos-Bueno, M. Canovas, E. S. Moreira, R. C. M. Pavanello, S. K. Marie, L. V. B. Anderson, C. G. Bonnemann, E. M. McNally, V. Nigro, L. M. Kunkel, M. Zatz] To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (α-, β-, γ-, δ-SG), dystrophin, β-dystroglycan (β-DG) and merosin. All patients with LGMD2A and 2B had a mild clinical course while those with a primary sarcoglycan mutation (LGMD2C to 2F) had a range of clinical severity. Dystrophin and merosin immunofluorescence pattern was positive in patients with all six AR LGMDs. The majority of patients with a severe Duchenne-like phenotype presented total absence of the SG complex. However, some exceptions were found in 13q linked patients, indicating that the presence of a certain labelling for components of the SG may not be prognostic for a milder phenotype. The observation that the primary absence of α-SG results in the total absence of β-and δ-SG but not of γ-SG suggests that the α-, β-and δ-subunits of sarcoglycan may be more closely associated. A secondary reduction in dystrophin amount was seen in patients with primary sarcoglycan mutations, which was most marked in patients with primary β-, γ-and δ-SG deficiencies. In contrast, β-DG staining was retained in all patients, suggesting that the association between SG and DG subcomplexes is not so strong. Based on the above findings, we have refined the model for the interaction among the known glycoproteins of the sarcoglycan complex, within the DGC. © 1993 Oxford University Press Vainzof M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Passos-Bueno M. R. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Canovas M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Moreira E. S. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Pavanello R. C. M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Marie S. K. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Anderson L. V. B. Muscular Dystrophy Research Labs, Newcastle General Hospital, Newcastle upon Tyne, UK aut Bonnemann C. G. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut McNally E. M. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut Nigro V. Intituto di Patologia Generale e Oncologia, Napoli, Italy aut Kunkel L. M. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut Zatz M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 1963-1969 0964-6906 5:12<1963 1996 5 hmg https://doi.org/10.1093/hmg/5.12.1963 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.1963 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vainzof M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Passos-Bueno M. R. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Canovas M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Moreira E. S. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Pavanello R. C. M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Marie S. K. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 700 1- Anderson L. V. B. Muscular Dystrophy Research Labs, Newcastle General Hospital, Newcastle upon Tyne, UK aut NATIONALLICENCE 700 1- Bonnemann C. G. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut NATIONALLICENCE 700 1- McNally E. M. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut NATIONALLICENCE 700 1- Nigro V. Intituto di Patologia Generale e Oncologia, Napoli, Italy aut NATIONALLICENCE 700 1- Kunkel L. M. Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, USA aut NATIONALLICENCE 700 1- Zatz M. Departamento de Biologia, IB-USP, R. do Matão, 277, CEP 05508-900, São Paulo, Brazil aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 1963-1969 0964-6906 5:12<1963 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