منابع مشابه
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
M uscle-eye-brain disease (MEB; OMIM 253280) was first described in 1977 in Finland, where it is enriched because of founder effect and genetic isolation. MEB is now known to occur throughout the world, but Finland remains the country with the largest group of MEB patients. MEB patients present as floppy infants with visual problems and severe mental retardation. The hypotonia is partly caused ...
متن کاملTeaching neuroimages: prenatal MRI of muscle-eye-brain disease.
A 29-week fetus was noted to have dilation of the entire ventricular system on prenatal ultrasound. Fetal MRI at 33 weeks revealed brain malformations suggestive of congenital muscular dystrophy (figure, A and B).1,2 Following normal delivery at 40 weeks, examination was remarkable for retinal detachment (figure, D) and optic nerve hypoplasia, without dysmorphic features. Sequence analysis show...
متن کاملMuscle-eye-brain disease and Walker-Warburg syndrome.
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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملAntenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
BACKGROUND Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year. OBJECTIVE To describe serial antenatal and postnatal brain MRIs in a child with MEB. ...
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...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2006
ISSN: 0972-2327
DOI: 10.4103/0972-2327.22824