Linked Life Data

11359403

Source:http://linkedlifedata.com/resource/pubmed/id/11359403

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2001-5-21
pubmed:abstractText
A 28-year-old Japanese woman with hereditary complement (C9) deficiency and dermatomyositis is reported. She had a 3-year history of facial erythema and a 1-month history of progressive muscle weakness. Clinical and laboratory findings were suggestive of dermatomyositis; muscle biopsy confirmed an inflammatory myopathy. An unexpected finding, however, was the low titre of serum haemolytic complement (CH50). Treatment with prednisolone resulted in marked clinical improvement but did not affect the CH50 titre. Further investigation revealed a selective and total absence of the ninth complement component (C9), with direct DNA sequence analysis revealing a non-sense mutation at Arg95 of the C9 gene. This case demonstrates that the muscle lesions of dermatomyositis can occur in the presence of a complement defect that would prevent the formation of the C5b-9 membrane attack complex.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1080-3
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Hereditary complement (C9) deficiency associated with dermatomyositis.
pubmed:affiliation
Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tenno-dai, Tsukuba, Ibaraki 305-8575, Japan. eikoi@md.tsukuba.ac.jp
pubmed:publicationType
Journal Article, Case Reports