Syndrome Muscle-Eye-Brain

Syndrome Muscle-Eye-Brain
Page d'aide sur l'homonymie Pour les articles homonymes, voir MEB.
Syndrome Muscle-Eye-Brain
Référence MIM 253280
Transmission Récessive
Chromosome 1p34-p33
Gène POMGNT1
Mutation Ponctuelle
Incidence inférieure à 1 pour 100 000
Maladie génétiquement liée Aucune
Diagnostic prénatal Possible
Liste des maladies génétiques à gène identifié

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

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