Linked Life Data

15031771

Source:http://linkedlifedata.com/resource/pubmed/id/15031771

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-3-19
pubmed:abstractText
We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (Kearns-Sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. Insulin treatment was started and associated endocrinopathies were investigated. DNA analysis identified a novel 7301-bp deletion in mitochondrial DNA, ranging from position 6530 to 13 831 corroborating the diagnosis of Kearns-Sayre syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0947-7349
pubmed:author
pubmed:issnType
Print
pubmed:volume
112
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
80-3
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.
pubmed:affiliation
Department of Endocrinology-Diabetology, University Hospital of Antwerp, Edegem, Belgium. christophe.deblock@ua.ac.be
pubmed:publicationType
Journal Article, Case Reports