Linked Life Data

7909361

Source:http://linkedlifedata.com/resource/pubmed/id/7909361

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-5-24
pubmed:abstractText
We report a patient who had episodes of recurrent peripheral nerve pressure palsies. Electrodiagnostically, we found a clear decrease of nerve conduction velocity in affected and unaffected nerves. All the patient's relatives showed entirely normal clinical and electrodiagnostic findings. Histopathologically, there were extensive irregularities of the myelin sheaths with numerous tomaculous swellings. DNA analysis revealed a deletion for probes flanking the PMP-22 gene at the maternal chromosome 17 in our patient. His mother showed a normal gene dosage for all markers deleted in our patient, indicating a new mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
753-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings.
pubmed:affiliation
Department of Neurology, Hospital of the Brothers of St. John, Graz, Austria.
pubmed:publicationType
Journal Article, Case Reports