Muscle-eye-brain disease and Walker-Warburg syndrome.
نویسندگان
چکیده
D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Neuroimaging manifestations and classification of congenital muscular dystrophies.
BACKGROUND AND PURPOSE Recent work has shown that up to 50% of patients with congenital muscular dystrophies (CMDs) have abnormalities of the brain that can be detected by brain MR imaging. We attempted to determine whether brain MR imaging is useful for the diagnosis and classification of patients with CMDs. METHODS The brain MR studies of 12 patients with biopsy-proved CMDs were reviewed re...
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Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferas...
متن کاملSevere muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more su...
متن کاملMultiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease.
M uscle-eye-brain (MEB) disease is a rare congenital autosomal recessive disorder with around 30 reported cases in the literature. It is 1 of 3 types of congenital muscular dystrophy with severe defects in organogenesis and neuronal migration, and, along with Walker-Warburg syndrome, is associated with ocular abnormalities. Usually, the retina in MEB disease and Walker-Warburg syndrome is descr...
متن کاملAssignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dys...
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ورودعنوان ژورنال:
- American journal of medical genetics
دوره 36 3 شماره
صفحات -
تاریخ انتشار 1990