A linkage study of Emery-Dreifuss muscular dystrophy |
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| Authors: | Shirley Hodgson Ernst Boswinkel Charlotte Cole Alison Walker V Dubowitz Claudia Granata L Merlini M Bobrow |
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| Institution: | (1) Paediatric Research Unit, Prince Philip Research Laboratories, United Medical and Dental School of St. Thomas's Hospital, United Medical and Dental School of Guy's Hospital, Guy's Campus, London Bridge, SE1 9RT London, UK;(2) Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, Ducane Road, W12 0HS London, UK;(3) Istituto Ortopedico Rizzoli, Via Codivilla 9, I-40136 Bologna, Italy |
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| Abstract: | Summary We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St 14 and DX13 respectively, located at Xq28.  for DXS15=1.14 at  =0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity. |
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