caa a22 4500 397574479 CHVBK 20180308164851.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1043 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1043 Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37 [Elektronische Daten] [Marcy C. Speer, Rup Tandan, Nagesh P. Rao, Timothy Fries, Jeffrey M. Stajich, Pieter A. Bolhuis, G. Joost Jöbsis, Jeffery M. Vance, Kristi D. Viles, Karen Sheffield, Christi James, Stephen G. Kahler, Mark Pettenati, John R. Gilbert, Peter H. Denton, Larry H. Yamaoka, Margaret A. Pericak-Vance] The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the α1 and α2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated as candidate genes. We investigate a large family of French Canadian descent (family 1489) in which the Bethlem myopathy is segregating. Family 1489 is unlinked to the region of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classification. In view of the localization of the genes coding the α1 and α2 subunits of type VI collagen on chromosome 21q, we carried out linkage analysis on chromosome 2q where the α3 subunit of type VI collagen has been localized. We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis that COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy. © 1996 Oxford University Press Speer Marcy C. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Tandan Rup University Health Center, Burlington, Vermont, 05401 USA aut Rao Nagesh P. Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27157, USA aut Fries Timothy University Health Center, Burlington, Vermont, 05401 USA aut Stajich Jeffrey M. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Bolhuis Pieter A. University of Amsterdam, Amsterdam, The Netherlands aut Jöbsis G. Joost University of Amsterdam, Amsterdam, The Netherlands aut Vance Jeffery M. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Viles Kristi D. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Sheffield Karen Southwest Foundation for Biomedical Research, San Antonio, TX 78228, USA aut James Christi Duke University Medical Center, Durham, NC 27710, USA aut Kahler Stephen G. Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA aut Pettenati Mark Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27157, USA aut Gilbert John R. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Denton Peter H. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Yamaoka Larry H. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Pericak-Vance Margaret A. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1043-1046 0964-6906 5:7<1043 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1043 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1043 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Speer Marcy C. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Tandan Rup University Health Center, Burlington, Vermont, 05401 USA aut NATIONALLICENCE 700 1- Rao Nagesh P. Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27157, USA aut NATIONALLICENCE 700 1- Fries Timothy University Health Center, Burlington, Vermont, 05401 USA aut NATIONALLICENCE 700 1- Stajich Jeffrey M. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Bolhuis Pieter A. University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Jöbsis G. Joost University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Vance Jeffery M. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Viles Kristi D. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Sheffield Karen Southwest Foundation for Biomedical Research, San Antonio, TX 78228, USA aut NATIONALLICENCE 700 1- James Christi Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Kahler Stephen G. Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Pettenati Mark Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27157, USA aut NATIONALLICENCE 700 1- Gilbert John R. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Denton Peter H. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Yamaoka Larry H. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 700 1- Pericak-Vance Margaret A. Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1043-1046 0964-6906 5:7<1043 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