Linked Life Data

2165773

Source:http://linkedlifedata.com/resource/pubmed/id/2165773

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1990-9-6
pubmed:abstractText
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0004-282X
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
32-43
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Mitochondrial myopathy and myoclonic epilepsy.
pubmed:affiliation
Hospital Nossa Senhora das Graças and Hospital de Clínicas, Universidade Federal do Paraná.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't