Linked Life Data

20225026

Source:http://linkedlifedata.com/resource/pubmed/id/20225026

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-3-12
pubmed:abstractText
In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) "classic" phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feature; and (iv) minimal adult phenotype. We also briefly revise genetic, electrophysiological, pathological and neuroimaging data of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0065-2598
pubmed:author
pubmed:issnType
Print
pubmed:volume
652
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
183-200
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
pubmed:affiliation
Service of Neurology, Clinical Neurophysiology and Radiology, University Hospital Marqués de Valdecilla, University of Cantabria, CIBERNED and IFIMAV, Santander, Spain. jaberciano@humv.es
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't