Linked Life Data

20382840

Source:http://linkedlifedata.com/resource/pubmed/id/20382840

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-5-28
pubmed:abstractText
A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and chronic phases of disease, suggesting that during metabolic stress connexin 32 mutations lead to a loss of normal cellular communication and reversible cell dysfunction in oligodendrocytes and in Schwann cells. These data confirm that altered gating properties of connexin 32 could give rise to acute, transient central and peripheral nervous system symptoms in situations of metabolic stress.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1708-8283
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
759-63
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.
pubmed:affiliation
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy. fusco.carlo@asmn.re.it
pubmed:publicationType
Journal Article, Case Reports