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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1995-4-26
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pubmed:abstractText |
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0364-5134
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
37
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
359-62
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7695235-Adolescent,
pubmed-meshheading:7695235-Adult,
pubmed-meshheading:7695235-Atrophy,
pubmed-meshheading:7695235-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:7695235-Cerebellum,
pubmed-meshheading:7695235-Child,
pubmed-meshheading:7695235-Child, Preschool,
pubmed-meshheading:7695235-Chromosome Mapping,
pubmed-meshheading:7695235-Chromosomes, Human, Pair 9,
pubmed-meshheading:7695235-Echocardiography,
pubmed-meshheading:7695235-Female,
pubmed-meshheading:7695235-Friedreich Ataxia,
pubmed-meshheading:7695235-Humans,
pubmed-meshheading:7695235-Lod Score,
pubmed-meshheading:7695235-Magnetic Resonance Imaging,
pubmed-meshheading:7695235-Male,
pubmed-meshheading:7695235-Pedigree,
pubmed-meshheading:7695235-Phenotype,
pubmed-meshheading:7695235-Point Mutation,
pubmed-meshheading:7695235-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7695235-Reflex, Stretch,
pubmed-meshheading:7695235-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:7695235-Spinal Cord
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pubmed:year |
1995
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pubmed:articleTitle |
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
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pubmed:affiliation |
Department of Genetics, Hospital Universitari La Fe, Valencia, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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