Document Detail

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.
MedLine Citation:
PMID:  1975852     Owner:  NLM     Status:  MEDLINE    
The autosomal dominant disorder facioscapulohumeral muscular dystrophy (FSHD) is the last of the major progressive muscular dystrophies in which the gene had not been located. In linkage analysis on ten Dutch families with this disorder a lod score of 6.34 at a recombination fraction of 0.13 was obtained with the microsatellite marker Mfd 22 (D4S171). This maps the FSHD gene to chromosome 4. Only one family was uninformative for this marker. We found no evidence of genetic heterogeneity.
C Wijmenga; R R Frants; O F Brouwer; P Moerer; J L Weber; G W Padberg
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  336     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1990 Sep 
Date Detail:
Created Date:  1990-10-12     Completed Date:  1990-10-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  651-3     Citation Subset:  AIM; IM    
Department of Neurology, Leiden University, Netherlands.
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MeSH Terms
Chromosome Mapping*
Chromosomes, Human, Pair 4*
Genetic Markers / blood
Genome, Human
Lod Score
Muscular Dystrophies / classification,  epidemiology,  genetics*
Netherlands / epidemiology
Polymerase Chain Reaction
Recombination, Genetic
Reg. No./Substance:
0/Genetic Markers

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