Syndrome muscle-eye-brain

Syndrome muscle-eye-brain

Syndrome Muscle-Eye-Brain

Page d'aide sur l'homonymie Pour les articles homonymes, voir MEB.
Syndrome Muscle-Eye-Brain
Autre nom Maladie de Santavuori
Référence MIM 253280
Transmission Récessive
Chromosome 1p34-p33
Gène POMGNT1
Empreinte parentale  ?
Mutation Ponctuelle
Mutation de novo  ?
Nombre d'allèles pathologiques  ?
Anticipation  ?
Porteur sain  ?
Incidence inférieure à 1 pour 100 000
Prévalence  ?
Pénétrance  ?
Nombre de cas  ?
Maladie génétiquement liée Aucune
Diagnostic prénatal Possible
Article principal Dystrophies musculaires congénitales
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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