Literature DB >> 7258185

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

P A Jacobs, P A Hunt, M Mayer, R D Bart.   

Abstract

An isolated case of Duchenne muscular dystrophy in a female who has a de novo t(X;5)(p21;q35) translocation is described. The similarities between this patient and four previously reported females with Duchenne muscular dystrophy are discussed. It is concluded that the locus for Duchenne muscular dystrophy is at Xp21 and, furthermore, that this site may be particularly susceptible both to chromosome breakage and exchange and to gene mutation.

Entities:  

Mesh：

Year:  1981        PMID： 7258185      PMCID： PMC1685082     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  4 in total

1.  Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy.

Authors:  H F Willard; S A Latt
Journal:  Am J Hum Genet       Date:  1976-05       Impact factor: 11.025

2.  An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.

Authors:  R M Greenstein; M P Reardon; T S Chan; A B Middleton; R A Mulivor; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1980

3.  Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

Authors:  N J Carpenter; B Say; D Browning
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

4.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

Authors:  R H Lindenbaum; G Clarke; C Patel; M Moncrieff; J T Hughes
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318
  4 in total
  62 in total

1.  Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Authors:  V Shashi; W L Golden; P S Allinson; S H Blanton; C von Kap-Herr; T E Kelly
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 2.  American Society of Human Genetics presidential address, October 18, 1990.

Authors:  C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

3.  Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Authors:  B de Martinville; L M Kunkel; G Bruns; F Morlé; M Koenig; J L Mandel; A Horwich; S A Latt; J F Gusella; D Housman
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

4.  Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Authors:  S Liechti-Gallati; M Koenig; L M Kunkel; D Frey; E Boltshauser; V Schneider; S Braga; H Moser
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

5.  Short stature: a common feature in Duchenne muscular dystrophy.

Authors:  U Eiholzer; E Boltshauser; D Frey; L Molinari; M Zachmann
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

6.  Twenty years-Iowa muscle clinic: reminiscences and prospects.

Authors:  H Zellweger; J Simpson; V Ionasescu
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

7.  Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.

Authors:  H M Kingston; M Sarfarazi; N S Thomas; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

Authors:  M Fraccaro; O Zuffardi; E Bühler; A Schinzel; G Simoni; R Witkowski; E Bonifaci; D Caufin; G Cignacco; N Delendi
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers.

Authors:  G E Jones; J A Witkowski
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025
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