Linked Life Data

11480253

Source:http://linkedlifedata.com/resource/pubmed/id/11480253

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2001-8-1
pubmed:abstractText
We report three cases of Bethlem myopathy from three consecutive generations of a Taiwanese family, including one woman aged 70, one man aged 40, and a boy aged 8. The clinical features of the patients included autosomal dominant inheritance, childhood or adolescent onset, mainly proximal and extensor involvement, early diffuse joint contractures, and absence of cardiac involvement. These features fulfilled the diagnostic criteria for Bethlem myopathy. Though the clinical course of the disease was once thought to be benign, our female patient became wheelchair-bound at the age of 53. This suggests that the disease process in Bethlem myopathy is slow but ongoing.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0929-6646
pubmed:author
pubmed:issnType
Print
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
416-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Bethlem myopathy in a Taiwanese family.
pubmed:affiliation
Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, 95 Wen-Chang Road, Shih Lin, Taipei, Taiwan.
pubmed:publicationType
Journal Article, Case Reports