Document Detail

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
MedLine Citation:
PMID:  11932972     Owner:  NLM     Status:  MEDLINE    
Facioscapulohumeral muscular dystrophy (FSHD) is associated with the deletion of a variable number of 3.3-kb subunits of a tandemly arranged repeat (D4Z4) on chromosome 4q35. EcoRI/BlnI fragments in the range of 10-35 kb are currently defined as disease-associated. Diagnosis of FSHD is frequently complicated by interchromosomal exchange with a homologous locus on 10q26. We present clinical and laboratory data of six subjects from two unrelated families with a marked FSHD phenotype and EcoRI/BlnI fragments of 39 and 33 kb, respectively. Origin on chromosome 4q35 was confirmed by haplotype analysis in the first family and was supported by pulsed field gel electrophoresis data in the second family. Our data further confirm the existence of a region of overlap of normal and pathological fragments. Fragments from this region can obviously be associated with marked FSHD phenotypes. Furthermore, application of linked markers and resolution of all EcoRI/BlnI fragments by pulsed field gel electrophoresis in addition to routine laboratory tests considerably augments the information obtained from molecular tests, upon which genetic counselling can then be based.
Stefan Vielhaber; Sibylle Jakubiczka; J Michael Schröder; Michael Sailer; Helmut Feistner; Hans-Jochen Heinze; Peter Wieacker; Thomas Bettecken
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  25     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-04-04     Completed Date:  2002-05-03     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  540-8     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley Periodicals, Inc.
Department of Neurology, Otto-von-Guericke University Magdeburg, Medical Center, Leipziger Strasse 44, D-39120 Magdeburg, Germany.
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MeSH Terms
Base Sequence / genetics
Chromosomes, Human, Pair 10 / genetics*
Chromosomes, Human, Pair 4 / genetics*
DNA Fragmentation / genetics*
DNA Mutational Analysis
Deoxyribonuclease EcoRI / diagnostic use,  genetics
Deoxyribonucleases, Type II Site-Specific / diagnostic use,  genetics
Gene Deletion
Genetic Testing
Middle Aged
Molecular Weight
Muscle, Skeletal / pathology,  physiopathology
Muscular Dystrophy, Facioscapulohumeral / genetics*,  pathology,  physiopathology
Mutation / genetics*
Recombination, Genetic / genetics*
Reg. No./Substance:
EC 3.1.21.-/Deoxyribonuclease EcoRI; EC type II deoxyribonucleases; EC, Type II Site-Specific

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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