Linked Life Data

3022527

Source:http://linkedlifedata.com/resource/pubmed/id/3022527

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1986-12-4
pubmed:abstractText
21 members of a large kinship with autosomal dominant CMT showing typical clinical findings were studied electroneurographically, with visual evoked potentials (VEP) and with blood group markers. In clinically affected members, the mean motor nerve conduction velocity (NCV) of the median nerve was found to be 17.5 m/s (SD 2.4). Contrary to previous genetic linkage studies in CMT families with comparable slow motor NCV, blood group typing in this family excluded close linkage of HMSN I to Duffy locus, which may indicate the existence of another subgroup in CMT neuropathy. Mean latencies of VEP, in both clinically affected and unaffected members, showed no pathological alterations when compared to normals. There was no correlation between NCV and P 100 latencies, but significant variation of P 100 latencies in families of twin brothers could be demonstrated. As already suggested by other authors, our findings may also indicate heterogeneity in this neuropathy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
145-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT).
pubmed:publicationType
Journal Article