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)
Hypertrophic cardiomyopathy and juvenile amaurotic
idiocy
(one of the ceroid lipofuscinoses ) were diagnosed in a 29 year old man. This combined finding may be one of pure coincidence, but hypertrophic cardiomyopathy like changes of the myocardium are known to occur in
Friedreich's ataxia
and lentiginosis . The occurrence may, therefore, indicate some fundamental interrelation.
...
PMID:Hypertrophic cardiomyopathy in combination with juvenile amaurotic idiocy. Chance or fundamentally related findings? 653 20
