" /> Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia - CISMeF





Preferred Label : Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia;

Symbol : CMYO1A;

CISMeF acronym : CCD; CCO; CNMDU1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CCO; Central core disease of muscle; CCD;

Description : Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1; 145600). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutations in the ryanodine receptor 1 gene (RYR1, 180901.0003);

Prefixed ID : #117000;

Détails


Vous pouvez consulter :


Nous contacter.
28/07/2025


[Accueil] [Haut de page]

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