Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0016719 (
Friedreich's ataxia
)
2,098
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Cardiac abnormalities are a characteristic feature of the autosomal, recessively inherited, spinocerebellar degeneration known as
Friedreich's ataxia
. We report the pathologic changes in the heart of a 27-year-old woman with
Friedreich's ataxia
, including ventricular subendocardial
fibroelastosis
, occlusion of the coronary sinus ostium, individual myofiber loss, myofiber disarray, and markedly enlarged, hyperchromatic myofiber nuclei. A common pathogenetic mechanism may underlie both cardiac and neurological abnormalities.
...
PMID:The heart in Friedreich's ataxia. Report of a case. 394 63
