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:C0013362 (
dysarthria
)
3,768
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Costeff syndrome or 3-methylglutaconic aciduria type 3, was described by a group of Israeli doctors in 1989. Since then more than 40 patients were described. Most of the patients are of Iraqi-Jewish origin. The clinical abnormalities are bilateral optic atrophy, extrapyramidal signs, spasticity ataxia,
dysarthria
and mild cognitive deficit. Recently, the gene responsible for this disorder,
OPA3
gene was identified. This gene was also discovered by an Israeli doctor. This is a case history of a patient with Costeff syndrome presenting the characteristics of this syndrome and the gene that causes this disease.
...
PMID:[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]. 1683 91
