caa a22 4500 397574037 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.815 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.815 Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33-34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD [Elektronische Daten] [M. R. Passos-Bueno, E. S. Moreira, M. Vainzof, S. K. Marie, M. Zatz] Limb-girdle muscular dystrophies (LGMDs) represent a clinically heterogeneous group of genetic diseases characterised by progressive weakness of the pelvic and shoulder girdle muscles. An autosomal dominant form (LGMD1A) has been mapped at 5q22.3-31.3, while five genes responsible for the autosomal recessive forms were mapped respectively at: 15q15.1 (LGMD2A), 2p12-p16 (LGMD2B), 13q12 (LGMD2C), 17q12-q21.33 (LGMD2D) and 4q12 (LGMD2E). Among 17 autosomal recessive (AR) LGMD Brazilian families with at least three affected sibs, we were able to exclude four families (one mild and three severe) from all these five known loci as well as from the dystroglycan and syntrophin genes. Therefore, we have performed a genome-wide search in two of the severely affected families, which are α-sarcoglycan negative. We demonstrate linkage of these two Duchenne muscular dystrophy-like families to 5q33-34, and propose to classify them as LGMD2F. In addition, linkage analysis in the other two genealogies that are α-sarcoglycan positive suggests that there is at least one other gene which causes AR LGMD. © 1996 Oxford University Press Passos-Bueno M. R. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut Moreira E. S. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut Vainzof M. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut Marie S. K. Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil aut Zatz M. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 815-820 0964-6906 5:6<815 1996 5 hmg https://doi.org/10.1093/hmg/5.6.815 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.815 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Passos-Bueno M. R. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Moreira E. S. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Vainzof M. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Marie S. K. Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Zatz M. Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 815-820 0964-6906 5:6<815 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