APPLICATION OF MOLECULAR METHODOLOGIES IN MUSCULAR DYSTROPHIES

By V. ALNAL

CONTENTS 1 INTRODUCTION AND OVERVIEW OF FSHD 2 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: HISTORICAL BACKGROUND AND LITERATURE REVIEW 3 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: A CLINICIAN’S EXPERIENCE 4 MAPPING OF THE FSHD GENE AND THE DISCOVERY OF THE PATHOGNOMONIC DELETION 5 IDENTIFICATION AND CHARACTERIZATION OF CANDIDATE GENES IN FSHD REGION 7 SUBTELOMERIC EXCHANGE BETWEEN 4Q AND 10Q SEQUENCES 8 GENOMIC ANALYSIS OF THE SUBTELOMERIC REGIONS OF HUMAN CHROMOSOMES 10Q AND 4Q: RELEVANCE TO FSHD 9 THE DUX GENE FAMILY AND FSHD 10 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD): A DISORDER OF MUSCLE GENE REPRESSION 11 GENOTYPE-PHENOTYPE RELATIONSHIPS IN FSHD 12 MOSAICISM AND FSHD 13 RETINAL VASCULAR ABNORMALITIES IN FSHD: A THERAPEUTIC MESSAGE; CLUES TO PATHOGENESIS 14 UNUSUAL CLINICAL FEATURES ASSOCIATED WITH FSHD 15 MOLECULAR DIAGNOSIS OF FSHD 16 FSHD MYOBLASTS: IN VITRO STUDIES 17 EXPLORING HYPOTHESES ABOUT THE MOLECULAR AETIOLOGY OF FSHD: LOSS OF HETEROCHROMATIN SPREADING AND OTHER LONG-RANGE INTERACTION MODELS 18 HISTOLOGICAL, IMMUNOLOGICAL, MOLECULAR AND ULTRASTRUCTURAL CHARACTERISTICS OF FSHD MUSCLE 19 LINKAGE ANALYSIS IN NON-CHROMOSOME 4-LINKED FSHD 20 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: GENDER DIFFERENCES AND GENETIC COUNSELLING IN A COMPLEX DISORDER 21 GENETIC COUNSELLING FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD) 22 SARCOLEMMAL REORGANIZATION IN FSHD 23 EXPRESSION PROFILING IN FSHD 24 THERAPEUTIC TRIALS AND MEDICAL MANAGEMENT IN FSHD