Research view

Title: Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
Author: M?garban? A, Khalil G, Waked N, R?tig A, Caillaud C, Loiselet J.
Abstract:
We present a family with four children born to second-cousin parents. Two of the children had myoclonic epilepsy, congenital deafness, a dystrophic pattern of the macular pigment epithelium, incomplete right bundle branch block, and psychiatric disord
Journal: Am J Med Genet. 1999 Dec 3;87(4):289-93