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: EC:1.6.5.3 (
complex I
)
8,901
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We reported a patient with Leber's hereditary optic neuropathy (LHON) with an intracranial
arteriovenous malformation
(AVM). Genetic analysis of this patient revealed a point mutation in mitochondrial DNA (mtDNA) at nucleotide position 11,778 in the ND4 subunit of
complex I
. Although the relationship between intracranial AVM and mtDNA mutations remains uncertain, some patients with intracranial AVM may be associated with mitochondrial abnormality. Further study is necessary to confirm whether the above conditions are coincidental or closely interrelated.
...
PMID:Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report. 1216 5
