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:C0494475 (
tonic-clonic seizure
)
1,319
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
DIDMOAD
is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and
grand mal seizures
. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, which was inherited from his mother. This suggests the
DIDMOAD
phenotype is a mitochondrial disorder in some cases and is likely to have a heterogeneous aetiology.
...
PMID:Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 807 60
