Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-12-24
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
120-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
pubmed:affiliation
Department of Neurology, Charité University Hospital, Berlin, Germany. thomas.meyer@charite.de
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't