" /> Charcot-marie-tooth disease, dominant intermediate g - CISMeF





Preferred Label : Charcot-marie-tooth disease, dominant intermediate g;

Symbol : CMTDIG;

CISMeF acronym : CMTDIG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofilament protein, light polypeptide gene (NEFL, 162280.0010);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617882;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

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