" /> Myopathy, distal, with rimmed vacuoles - CISMeF





Preferred Label : Myopathy, distal, with rimmed vacuoles;

Symbol : DMRV;

CISMeF acronym : DMRV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multisystem proteinopathy 4; MSP4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sequestome 1 gene (SQSTM1, 601530.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617158;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

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