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:C0038220 (
status epilepticus
)
7,272
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 67-year-old man presented with cognitive deficits,
status epilepticus
, left hemiparesis, and severe lactic acidosis. Respiratory chain enzyme analysis of skeletal muscle revealed a defect in complex I activity, associated with a heteroplasmic C11777A mutation in the mitochondrial
ND4
gene. This case is remarkable not only because of the late onset of symptoms, but because this mutation affects the identical
ND4
codon as the G11778A mutation that causes Leber hereditary optic neuropathy.
...
PMID:Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 1270 44
