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central core myopathy

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.
Uniprot Description Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.
Mondo Term and Equivalent IDs
MONDO:0007294:  central core myopathy
EFO:1000855: 
GARD:0006014: 
MESH:D020512: 
NCIT:C83010: 
Orphanet:597: 
SCTID:43152001: 
UMLS:C0751951: