A linkage study of Emery-Dreifuss muscular dystrophy
- 1 December 1986
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 74 (4) , 409-416
- https://doi.org/10.1007/bf00280495
Abstract
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. Ž for DXS15=1.14 at Θ=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.Keywords
This publication has 35 references indexed in Scilit:
- Genetic studies in a family with testicular feminization, haemophilia A and colour blindnessClinical Genetics, 2008
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- A de novo X;13 translocation with abnormal phenotype.Journal of Medical Genetics, 1986
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1985
- Emery-Dreifuss muscular dystrophyThe Journal of Pediatrics, 1984
- CHARACTERISATION AND USE OF AN INTRAGENIC POLYMORPHIC MARKER FOR DETECTION OF CARRIERS OF HAEMOPHILIA B (FACTOR IX DEFICIENCY)The Lancet, 1984
- Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.Journal of Neurology, Neurosurgery & Psychiatry, 1981
- Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy.Circulation, 1979
- An unusual family of benign "X" linked muscular dystrophy with cardiac involvement.Journal of Medical Genetics, 1976
- Unusual type of benign x-linked muscular dystrophy.Journal of Neurology, Neurosurgery & Psychiatry, 1966