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rdf:type |
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lifeskim:mentions |
|
|
pubmed:issue |
3
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pubmed:dateCreated |
1982-12-18
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|
pubmed:abstractText |
Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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|
pubmed:issn |
0174-304X
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
13
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
161-7
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:7133337-Adolescent,
pubmed-meshheading:7133337-Adult,
pubmed-meshheading:7133337-Audiometry, Evoked Response,
pubmed-meshheading:7133337-Brain,
pubmed-meshheading:7133337-Brain Stem,
pubmed-meshheading:7133337-Cockayne Syndrome,
pubmed-meshheading:7133337-Dwarfism,
pubmed-meshheading:7133337-Electroencephalography,
pubmed-meshheading:7133337-Female,
pubmed-meshheading:7133337-Humans,
pubmed-meshheading:7133337-Male,
pubmed-meshheading:7133337-Muscles,
pubmed-meshheading:7133337-Neural Conduction,
pubmed-meshheading:7133337-Sural Nerve,
pubmed-meshheading:7133337-Vision, Ocular
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pubmed:year |
1982
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pubmed:articleTitle |
Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.
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pubmed:publicationType |
Journal Article,
Case Reports
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