" /> Dystonia 25 - CISMeF





Preferred Label : Dystonia 25;

Symbol : DYT25;

CISMeF acronym : DYT25;

Type : Phenotype, molecular basis known;

Description : Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by Fuchs et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type gene (GNAL, 139312.0001);

Prefixed ID : #615073;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.