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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1993-5-4
|
| pubmed:abstractText |
The clinical features of Friedreich's ataxia are described and reevaluated in a group of 14 German patients from 9 independent families. In contrast to previous studies, demonstration of linkage to the Friedreich's ataxia locus (FRDA) on chromosome 9p allowed confirmation of the genetic homogeneity of the disease in the patients under study. Marked variability within families was observed for age of onset of the disease (4-24 years) and for age of becoming wheelchair bound (17-37 years). Electrocardiographic changes were present in all and echocardiographic changes in 50% of the patients. Pathological changes of visual evoked potentials were detected in only 50% of the patients while brainstem auditory evoked potentials and somatosensory evoked potentials were always abnormal.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0941-0198
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
71
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
109-14
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8096411-Adolescent,
pubmed-meshheading:8096411-Adult,
pubmed-meshheading:8096411-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:8096411-Child,
pubmed-meshheading:8096411-Child, Preschool,
pubmed-meshheading:8096411-Chromosomes, Human, Pair 9,
pubmed-meshheading:8096411-Electrocardiography,
pubmed-meshheading:8096411-Evoked Potentials,
pubmed-meshheading:8096411-Female,
pubmed-meshheading:8096411-Friedreich Ataxia,
pubmed-meshheading:8096411-Genes, Recessive,
pubmed-meshheading:8096411-Humans,
pubmed-meshheading:8096411-Lod Score,
pubmed-meshheading:8096411-Male,
pubmed-meshheading:8096411-Muscles,
pubmed-meshheading:8096411-Pedigree,
pubmed-meshheading:8096411-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:8096411-Reflex, Abnormal
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9.
|
| pubmed:affiliation |
Friedrich-Baur-Institut, Ludwig-Maximilians-Universität München.
|
| pubmed:publicationType |
Journal Article
|