Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy
References
- Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr 2009; 67: 144-68.
- Reed UC. Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr 2009; 67: 343-62.
- Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP et al. Congenital muscular dystrophies with defective glycosylation of dystroglycans. Neurology 2009; 72: 1802-9.
- Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Molec Genet 2003; 12: 527-34.
- Garg A, Gulati S, Gupta V, Kalra V. Congenital muscular dystrophy with characteristic radiological findings similar to Fukuyama congenital muscular dystrophy. Neurol India 2004; 52: 496-8.
Abstract | Reference