rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-12-24
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pubmed:abstractText |
A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene CACNA1S showed a mutation encoding p.R528H, which has been related previously to HypoPP. We propose that CACNA1S mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral sclerosis.
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0148-639X
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:volume |
37
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
120-4
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17587224-Adult,
pubmed-meshheading:17587224-Aged,
pubmed-meshheading:17587224-Calcium Channels,
pubmed-meshheading:17587224-DNA Mutational Analysis,
pubmed-meshheading:17587224-Female,
pubmed-meshheading:17587224-Genetic Markers,
pubmed-meshheading:17587224-Genetic Predisposition to Disease,
pubmed-meshheading:17587224-Genetic Testing,
pubmed-meshheading:17587224-Genotype,
pubmed-meshheading:17587224-Humans,
pubmed-meshheading:17587224-Hypokalemic Periodic Paralysis,
pubmed-meshheading:17587224-Male,
pubmed-meshheading:17587224-Motor Neuron Disease,
pubmed-meshheading:17587224-Muscle, Skeletal,
pubmed-meshheading:17587224-Muscular Atrophy,
pubmed-meshheading:17587224-Mutation,
pubmed-meshheading:17587224-Pedigree,
pubmed-meshheading:17587224-Risk Factors
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pubmed:year |
2008
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pubmed:articleTitle |
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
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pubmed:affiliation |
Department of Neurology, Charité University Hospital, Berlin, Germany. thomas.meyer@charite.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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