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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1983-3-17
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pubmed:abstractText |
The neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy, type II) was found to be present in ten of thirty-two members of one family. Motor nerve conduction velocities in this type of the disease may be normal in persons who are only mildly affected. Hoffmann-reflex investigation was effective in discriminating between affected and non-affected subjects. The mode of inheritance seemed to be X-linked, but this remained doubtful, because the outcome of the Hoffmann-reflex investigations was abnormal in one clinically non-affected boy. Xg(a)-typing gave no information as to linkage with the gene-locus of CMT. Close linkage between the loci for deutan anomaly and for CMT appeared to be very unlikely.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:issn |
0303-8467
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
84
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
147-58
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pubmed:dateRevised |
2009-10-14
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pubmed:meshHeading |
pubmed-meshheading:6295678-Adolescent,
pubmed-meshheading:6295678-Adult,
pubmed-meshheading:6295678-Aged,
pubmed-meshheading:6295678-Blood Group Antigens,
pubmed-meshheading:6295678-Charcot-Marie-Tooth Disease,
pubmed-meshheading:6295678-Child,
pubmed-meshheading:6295678-Female,
pubmed-meshheading:6295678-H-Reflex,
pubmed-meshheading:6295678-Humans,
pubmed-meshheading:6295678-Male,
pubmed-meshheading:6295678-Middle Aged,
pubmed-meshheading:6295678-Muscular Atrophy,
pubmed-meshheading:6295678-Pedigree,
pubmed-meshheading:6295678-Reflex, Monosynaptic
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pubmed:year |
1982
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pubmed:articleTitle |
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease.
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pubmed:publicationType |
Journal Article,
Case Reports
|