Meyer, Sascha and Struffert, T. and Uyanik, Goekhan and Oehl-Jaschkowitz, B. and Hehr, U. and Shamdeen, M. G. (2005) Congenital muscular dystrophies: Muscle-eye-brain disease. KLINISCHE PADIATRIE, 217 (2). pp. 68-69. ISSN 0300-8630,
Full text not available from this repository. (Request a copy)Abstract
Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB. The clinical and radiological characteristics are demonstrated.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; congenital muscular dystrophies; muscle-eye-brain disease; Walker-Warburg syndrome |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 21 May 2021 11:15 |
| Last Modified: | 21 May 2021 11:15 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36437 |
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