Syndrome muscle-eye-brain
- Syndrome muscle-eye-brain
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Syndrome Muscle-Eye-Brain
Pour les articles homonymes, voir
MEB.
Le syndrome MEB acronyme de Muscle Eyes Brain est l’association d’une lissencéphalie pavimenteuse , d’une dystrophie musculaire congénitale et d’une anomalie oculaire importante.
Cette dystrophie musculaire congénitale est caractérisée par un taux de CK qui s’élève à partir de l’âge de 1 an. La lissencéphalie est souvent associée à une hydrocéphalie Le retard mental est constant et sévère. Les anomalies oculaires sont importantes : myopie congénitale, cataracte, glaucome, nystagmus
Sources
- Portail de la médecine
Catégories : Maladie génétique | Maladie neuro-musculaire héréditaire | Myopathie
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Contenu soumis à la licence CC-BY-SA. Source : Article Syndrome muscle-eye-brain de Wikipédia en français (auteurs)
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