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PMID: 3466853 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A linkage study of Emery-Dreifuss muscular dystrophy.

Human genetics ·Vol. 74 ·No. 4 ·1986-12-00 ·Pages 409-16

Hodgson S, Boswinkel E, Cole C, Walker A, Dubowitz V, Granata C, Merlini L, Bobrow M

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 St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 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.

MeSH Terms
Adolescent Adult Child Female Genetic Linkage Genetic Markers Humans Lod Score Male Middle Aged Muscular Dystrophies/genetics Muscular Dystrophy, Emery-Dreifuss Pedigree X Chromosome
Chemicals
Genetic Markers
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Hodgson S
Boswinkel E
Cole C
Walker A
Dubowitz V
Granata C
Merlini L
Bobrow M
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00280495
Published
1986-12-00
Pages
409-16
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00280495 View journal details
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