Source:http://linkedlifedata.com/resource/pubmed/id/17182368
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2006-12-21
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pubmed:abstractText |
Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0949-2321
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
14
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
545-6
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pubmed:meshHeading |
pubmed-meshheading:17182368-Axons,
pubmed-meshheading:17182368-Humans,
pubmed-meshheading:17182368-Hyperlipoproteinemias,
pubmed-meshheading:17182368-Lipomatosis, Multiple Symmetrical,
pubmed-meshheading:17182368-Male,
pubmed-meshheading:17182368-Middle Aged,
pubmed-meshheading:17182368-Mutation,
pubmed-meshheading:17182368-Peripheral Nervous System Diseases,
pubmed-meshheading:17182368-RNA,
pubmed-meshheading:17182368-RNA, Transfer
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pubmed:year |
2006
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pubmed:articleTitle |
Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.
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pubmed:publicationType |
Letter,
Comment,
Case Reports
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