Linked Life Data

17868276

Source:http://linkedlifedata.com/resource/pubmed/id/17868276

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2007-10-24
pubmed:abstractText
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3'-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1468-1331
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1288-91
pubmed:dateRevised
2008-1-31
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.
pubmed:affiliation
Department of Neurology, Keio University School of Medicine, Tokyo, Japan. hidehatt@1999.jukuin.keio.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't