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Case Reports
. 2005 Mar-Apr;217(2):68-9.
doi: 10.1055/s-2004-836254.

[Congenital muscular dystrophies: muscle-eye-brain disease]

[Article in German]
S Meyer  1 , T Struffert, G Uyanik, B Oehl-Jaschkowitz, U Hehr, M G Shamdeen
Affiliations
Case Reports

[Congenital muscular dystrophies: muscle-eye-brain disease]

[Article in German]
S Meyer et al. Klin Padiatr. 2005 Mar-Apr.

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.

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