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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1986-2-24
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pubmed:abstractText |
A kindred with dominantly inherited ataxia demonstrated hypertrophia musculorum vera as a phenotypic feature of the disease. The proband had fasciculations, cramps, absent sensory nerve action potentials, an increased creatine kinase level, dramatic enlargement of calf muscles, and a muscle biopsy specimen showing denervation accompanied by true muscle fiber hypertrophy; ataxia and other clinical signs of spinocerebellar degeneration were also present. Other family members displayed progressive ataxia and calf muscle enlargement to varying degrees. Though peroneal atrophy is a more common feature of the familial ataxias, some kindreds may have muscle enlargement simulating the pseudohypertrophy of muscular dystrophy that is due instead to denervation-induced compensatory individual fiber hypertrophy.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
|
pubmed:issn |
0003-9942
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
146-7
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:3947254-Adult,
pubmed-meshheading:3947254-Ataxia,
pubmed-meshheading:3947254-Female,
pubmed-meshheading:3947254-Humans,
pubmed-meshheading:3947254-Hypertrophy,
pubmed-meshheading:3947254-Leg,
pubmed-meshheading:3947254-Male,
pubmed-meshheading:3947254-Middle Aged,
pubmed-meshheading:3947254-Muscles
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pubmed:year |
1986
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pubmed:articleTitle |
Hypertrophia musculorum vera in familial ataxia.
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pubmed:publicationType |
Journal Article,
Case Reports
|