[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].

Abstract excerpt

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...

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