Linked Life Data

20516806

Source:http://linkedlifedata.com/resource/pubmed/id/20516806

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-6-2
pubmed:abstractText
We describe a previously asymptomatic patient who developed acute onset sensory symptoms which gradually resolved spontaneously. Neurologic examination revealed pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the myelin protein zero gene (Leu144fs). This case suggests that this novel myelin protein zero mutation, as others reported previously, also results in a mild phenotype with late-onset neurologic symptoms and may be accompanied by remitting sensory disturbances.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1537-1611
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
187-90
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.
pubmed:affiliation
Neuromuscular Clinic, Department of Neurology, University Hospitals of Leicester, Leicester, UK.
pubmed:publicationType
Journal Article, Case Reports