Linked Life Data

7501164

Source:http://linkedlifedata.com/resource/pubmed/id/7501164

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1996-1-18
pubmed:abstractText
We report two pairs of male homozygotic twins in two unrelated families with the Charcot-Marie-Tooth disease type 1A duplication. Homozygosity was supported by DNA analysis. There was remarkable congruity of conduction velocities between the left and right side of each twin and between twin brothers. The similarity and symmetry of the electrophysiologic deficit contrast with the variable and asymmetric clinical presentations. Variability of clinical expression in these patients with identical mutations suggests the action of stochastic factors or environmental modulation of disease severity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2090-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication.
pubmed:affiliation
Department of Neurology, Louisiana State University Medical Center, New Orleans 70112-2822, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't