Linked Life Data

2276038

Source:http://linkedlifedata.com/resource/pubmed/id/2276038

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1991-3-1
pubmed:abstractText
Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features resembled Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. Sural nerve biopsy of 5 patients revealed segmental demyelination and remyelination with hypertrophic changes, although onion bulbs were not as ubiquitous as in classical HMSN type III. A striking discriminating feature from HMSN type III was an abundance of focal myelin thickenings (tomacula) present in nearly all teased fibres. Possible pathogenic implications are discussed. These cases corroborate the heterogeneity of congenital motor and sensory neuropathies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0006-8950
pubmed:author
pubmed:issnType
Print
pubmed:volume
113 ( Pt 6)
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1629-43
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.
pubmed:affiliation
Institute of Neurology, University Hospital, Nijmegen, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports