Literature DB >> 3466853

A linkage study of Emery-Dreifuss muscular dystrophy.

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

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.

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Year:  1986        PMID： 3466853     DOI： 10.1007/BF00280495

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  32 in total

1.  Scapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome.

Authors:  M S Schwartz; M Swash
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-11       Impact factor: 10.154

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Authors:  F E DREIFUSS; G R HOGAN
Journal:  Neurology       Date:  1961-08       Impact factor: 9.910

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Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

7.  Unusual type of benign x-linked muscular dystrophy.

Authors:  A E Emery; F E Dreifuss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-08       Impact factor: 10.154

8.  Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy.

Authors:  Z ul Hassan; C P Fastabend; P K Mohanty; E R Isaacs
Journal:  Circulation       Date:  1979-12       Impact factor: 29.690

9.  A clinically useful DNA probe closely linked to haemophilia A.

Authors:  K Harper; R M Winter; M E Pembrey; D Hartley; K E Davies; E G Tuddenham
Journal:  Lancet       Date:  1984-07-07       Impact factor: 79.321

10.  Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.

Authors:  L Merlini; C Granata; P Dominici; S Bonfiglioli
Journal:  Muscle Nerve       Date:  1986 Jul-Aug       Impact factor: 3.217
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  8 in total

Review 1.  The muscular dystrophies.

Authors:  V Dubowitz
Journal:  Postgrad Med J       Date:  1992-07       Impact factor: 2.401

Review 2.  The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes.

Authors:  M F Lyon
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

Review 3.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

4.  Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Authors:  J R Yates; J P Warner; J A Smith; F Deymeer; J P Azulay; I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska; N A Affara; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

Review 5.  Molecular analysis of muscular dystrophy.

Authors:  K E Davies; S J Kenwrick; M N Patterson; T J Smith; S M Forrest; H R Dorkins; G S Cross; S B England
Journal:  J Muscle Res Cell Motil       Date:  1988-02       Impact factor: 2.698

6.  Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

Authors:  P Saviranta; M Lindlöf; A E Lehesjoki; H Kalimo; H Lang; V Sonninen; M L Savontaus; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

Review 7.  Emery-Dreifuss syndrome.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

8.  Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Authors:  P A Bolhuis; G W Hensels; T J Hulsebos; F Baas; P G Barth
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  8 in total

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