Article
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Human molecular genetics - 1 Mar 2003
Taniguchi Kiyomi, Kobayashi Kazuhiro, Saito Kayoko, Yamanouchi Hideo, Ohnuma Akira, Hayashi Yukiko K, Manya Hiroshi, Jin Dong Kyu, Lee Munhyang, Parano Enrico, Falsaperla Raffaele, Pavone Piero, Van Coster Rudy, Talim Beril, Steinbrecher Alice, Straub Volker, Nishino Ichizo, Topaloglu Haluk, Voit Thomas, Endo Tamao, Toda Tatsushi
Abstract excerpt
Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS), these three diseases are thought to result from a similar pathomechanism. Recently, we...
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