Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080827 | Neuromuscular Disorders | 2009 | 4 Pages |
Abstract
Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.
Keywords
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Ercan Demir, Kivilcım Gucuyener, Aysima Akturk, Beril Talim, Oznur Konus, Roberto Del Bo, Serena Ghezzi, Giacomo P. Comi,