Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-3-17
pubmed:abstractText
The skeletal muscle fibre membrane plays a major role in muscle contraction by generating and propagating action potentials, and linking the latter to the release of intracellular calcium stores which triggers mechanical contraction. This function relies on the proper functioning of ion channels. In the last two decades, diseases caused by mutations in muscle ion channel genes have been identified, the so-called muscle channelopathies. Even though the pathophysiology of muscle channelopathies is not completely elucidated, major advances have been made in their understanding, thus linking patient symptoms and neurophysiology with abnormal functioning of the muscle membrane. This has facilitated significant progress both in the diagnosis of these disorders and in the rationale for therapeutic intervention. In this review, we will focus on diagnosis and treatments of muscle channelopathies of relevance to the clinical neurologist.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1468-330X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
80
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
360-5
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Diagnosis and new treatment in muscle channelopathies.
pubmed:affiliation
University of Milan, IRCCS Policlinico San Donato, San Donato Mil, Milan, Italy. giovanni.meola@unimi.it
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't