Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1980-8-25
pubmed:abstractText
Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0003-4819
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
735-41
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Retracted Publication