Facioscapulohumeral Muscular Dystrophy (FSHD)

Clinical Medicine and Molecular Cell Biology

EDITORS:  M UPADHYAYA & D N COOPER, both at University of Wales, UK

BIOS Scientific Publishers

A Member of the Taylor & Francis Group

 

March 2004: 250pp

ISBN: 1859962440: £90.00

 

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of great interest to all genetic researchers. The mechanism involves a deletion of repetitive sequence elements on chromosome 4 which results in the over-expression of adjacent genes. This volume summarizes the current understanding of this transcriptional de-repression disorder, including clinical, molecular and therapeutic aspects.

 

Table of Contents:

Abbreviations

Acknowledgements

Appendices:  The FSH Society, The Muscular Dystrophy Campaign, The Association Francaise contre les Myopathies

 

 

FOREWORD

PETER HARPER, CARDIFF, UK

 

1.      FSHD: INTRODUCTION AND OVERVIEW

      MEENA UPADHYAYA & DAVID N COOPER, CARDIFF, UK

 

2.      FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: HISTORICAL BACKGROUND AND LITERATURE REVIEW

      MARK ROGERS, CARDIFF,UK

 

3.      FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: A CLINICIAN’S EXPERIENCE

      GEORGE PADBERG, NIJMEGEN, THE NETHERLANDS

 

4.      MAPPING OF THE FSHD GENE AND THE DISCOVERY OF THE PATHOGNOMONIC DELETION

      RUNE FRANTS, LODEWIJK A SANDKUIJL, SILVERE M van der MAAREL, GEORGE PADBERG, LEIDEN, NIJMEGEN, THE NETHERLANDS

 

5.      IDENTIFICATION AND CHARACTERIZATION OF GENES IN THE FSHD CANDIDATE REGION

      SILVANA van KONINGSBRUGGEN, SILVERE van der MAAREL, LEIDEN, THE NETHERLANDS

 

6.      EVOLUTION AND STRUCTURAL ORGANISATION OF HOMEOBOX-CONTAINING REPEAT D4Z4

      JANE HEWITT, MANCHESTER, UK

 

7.      SUBTELOMERIC EXCHANGE BETWEEN 4q AND 10q SEQUENCES

      RUNE FRANTS, SILVERE van der MAAREL, LEIDEN, NETHERLANDS

 

8.      GENOMIC ANALYSIS THE SUBTELOMERIC REGIONS OF HUMAN 10q AND 4q: RELEVANCE TO FSHD

      MICHAEL VAN GEEL & JANE HEWITT, NIJMEGEN, THE NETHERLANDS,   

      MANCHESTER, UK

 

9.      THE DUX GENE FAMILY AND FSHD

       F COPPEE, C MATTEOTTI, E ANSSEAU, S SAUVAGE, I LECLERCQ, A LEROY, A

       MARCOWYCZ, D FIGLEWICZ, H DING, ALEXANDER BELAYEW, LEUVEN, BELGIUM

 

10.  FSHD: A DISORDER OF MUSCLE GENE DEREPRESSION

      ROSSELLA TUPLER, DAVIDE GABELLINI,  WORCESTER, MA, USA

 

11.  THE GENOTYPE/ PHENOTYPE RELATIONSHIPS IN FSHD

  PETER LUNT, MEENA UPADHYAYA, MANUELA KOCH &, BRISTOL, CARDIFF, UK, MARBURG, GERMANY,

 

12.  MOSAICISM AND FSHD

       PETRA G M VAN OVERVELD, RUNE R FRANTS, SILVERE van der MAAREL, , LEIDEN,   THE NETHERLANDS

 

13.  RETINAL VASCULAR ABNORMALITIES IN FSHD. A THERAPEUTIC MESSAGE. CLUES FOR PATHOGENESIS?

      ROBIN FITZSIMONS, SYDNEY, AUSTRALIA

 

14.  UNUSUAL CLINICAL FEATURES ASSOCIATED WITH FSHD

      YUKIKO HAYASHI, TOKYO, JAPAN

 

15.  MOLECULAR DIAGNOSIS OF FSHD

      LEMMERS RJLF, MJ van der WIELEN, E BAKKAR, S van der MAAREL, LEIDEN, THE NETHERLANDS

 

16.  FSHD MYOBLASTS: IN VITRO STUDIES

       DENISE FIGLEWICZ, KATHY BARRETT, AMANDA HAEFELE LESKOVAR, JAMES R FORRESTER, JANET E SOWDEN, RABI TAWIL, ROCHESTER, NY, USA

 

17.  EXPLORING HYPOTHESES ABOUT THE MOLECULAR ETIOLOGY OF FSHD: LOSS OF HETEROCHROMATIN SPREADING AND OTHER LONG-RANGE INTERACTION MODELS.

      MELANIE EHRLICH, NEW ORLEANS, LO, USA

 

18.  HISTOLOGICAL, IMMUNOCYTOCHEMICAL, MOLECULAR AND UTRASTRUCTURAL, CHARACTERISTICS OF FSHD MUSCLE

        MARK ROGERS, MEENA UPADHYAYA, CAROLINE SEWERY, CARDIFF, OESWESTRY, UK  

 

19.  LINKAGE ANALYSIS IN NON-CHROMOSOME 4-LINKED FSHD

 KRISTEN BASTRESS, JEFFREY STAJICH, JOHN GILBERT, MARCY SPEER, DUKE, NC, USA

 

20.  GENDER INFLUENCES IN FSHD; IMPLICATIONS FOR PRECLINICAL AND ANTENATAL DIAGNOSIS

 MARIA MANUELA de OLIVEIRA TONINI, MAYANA ZATZ, SAO PAULO, BRAZIL

 

21.  GENETIC COUNSELLING FOR FSHD

      PETER LUNT, BRISTOL, UK

 

22.  SARCOLEMMAL REORGANISATION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

       PATRICK REED, NEIL C PORTER, JOHN STRONG, PAUL W LUTHER, KEVIN M FLANIGAN,

      ROBERT BLOCH, BALTIMORE, MD, USA

 

23.  EXPRESSION PROFILING OF FSHD

      SARA WINOKUR, YI-WEN CHEN, IRVINE, CA, USA

 

24.  THERAPEUTIC TRIALS AND MEDICAL MANAGEMENT IN FSHD

      RABI TAWIL, ROBERT GRIGGS, ROCHESTER, NY, USA.

 

     


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