|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
7
|
|
pubmed:dateCreated |
2003-10-14
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4. So far, homozygosity or compound heterozygosity for FSHD alleles has not been described, and it has been debated whether the absence of such subjects is because of the rarity or the lethality of the disorder.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Oct
|
|
pubmed:issn |
1526-632X
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
14
|
|
pubmed:volume |
61
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
909-13
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:14557558-Aged,
pubmed-meshheading:14557558-Alleles,
pubmed-meshheading:14557558-Chromosomes, Human, Pair 4,
pubmed-meshheading:14557558-Cytogenetic Analysis,
pubmed-meshheading:14557558-Electrophoresis, Gel, Pulsed-Field,
pubmed-meshheading:14557558-Female,
pubmed-meshheading:14557558-Gene Dosage,
pubmed-meshheading:14557558-Genes, Dominant,
pubmed-meshheading:14557558-Heterozygote,
pubmed-meshheading:14557558-Humans,
pubmed-meshheading:14557558-In Situ Hybridization, Fluorescence,
pubmed-meshheading:14557558-Male,
pubmed-meshheading:14557558-Muscular Dystrophy, Facioscapulohumeral,
pubmed-meshheading:14557558-Pedigree,
pubmed-meshheading:14557558-Penetrance,
pubmed-meshheading:14557558-Phenotype,
pubmed-meshheading:14557558-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:14557558-Restriction Mapping
|
|
pubmed:year |
2003
|
|
pubmed:articleTitle |
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
|
|
pubmed:affiliation |
Department of Neurology, University Medical Center Nijmegen, The Netherlands. m.wohlgemuth@neuro.umcn.nl
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
