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:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe three patients with mitochondrial myopathy, dementia, loss of vision and hearing, seizure disorder with
myoclonus
, intermittent headaches of a vascular type, visual hallucinations, cerebellar dysfunction, and lactic acidosis. Muscle biopsies in all patients and liver biopsy in one revealed abnormal mitochondria. The disorder may be due to a deficiency of mitochondrial
NADH
-CoQ dehydrogenase.
...
PMID:Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase? 641 59
