Linked Life Data

19017561

Source:http://linkedlifedata.com/resource/pubmed/id/19017561

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-12-2
pubmed:abstractText
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction. The defects interfere with presynaptic, synaptic, or postsynaptic function and compromise neuromuscular transmission. Most patients with CMS have similar clinical features regardless of the underlying defect, but attention to clinical and electrodiagnostic parameters can narrow the diagnostic spectrum. Recent advances in our understanding of the cellular mechanisms underlying specific syndromes allow DNA testing for some forms of CMS. Diagnosis of CMS enables a rationale for management to be developed. Two cases of genetically determined CMS as well as an undiagnosed infant are presented to highlight the clinical and electrophysiological difficulties associated with the diagnosis and management of such syndromes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0967-5868
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-11
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Congenital myasthenic syndromes.
pubmed:affiliation
Institute of Neurological Sciences, Prince of Wales Hospital, Randwick, New South Wales, Australia.
pubmed:publicationType
Journal Article, Review