Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study of 17 parents (obligate heterozygotes) of children with Friedreich's ataxia was carried out. In addition to medical histories and physical examinations, a standard 12 lead ECG tracing was obtained. In the age group below 50, there was no significant evidence of ischaemic or primary cardiomyopathy. Older subjects had more frequent risk factors for arteriosclerotic heart disease.
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PMID:Cardiovascular evaluation of obligate heterozygotes in Friedreich's ataxia. 48 2

The paper describes in detail morphologic changes in the cerebral cortex and spinal cord in familial ataxia (Friedreich's disease). Injury to the nervous system is associated with extraneural signs among which the leading role is attributed to myocardial lesions of the idiopathic cardiomyopathy type.
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PMID:[Morphological changes in familial ataxia (Friedreich's disease)]. 736 78