Linked Life Data

8583222

Source:http://linkedlifedata.com/resource/pubmed/id/8583222

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1996-3-19
pubmed:abstractText
We report the clinical, electrophysiological, and pathological findings of two unrelated Japanese families with hereditary neuropathy with liability to pressure palsies (HNPP) and confirm the findings of a deletion of peripheral myelin protein-22 (PMP-22) gene. Electrophysiological studies revealed slowing of nerve conduction velocities of the affected nerves. Sural nerve biopsy revealed regions of myelin duplication. The copy numbers of PMP-22 gene was lower than that of normal control, suggesting deletion of 17p11.2 including PMP-22 gene. Our results indicate that HNPP in these two Japanese families is attributable to deletion of 17p11.2 including PMP-22 gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
133
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
173-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.
pubmed:affiliation
Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
pubmed:publicationType
Journal Article, Case Reports