central core myopathy
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.
MONDO:0018943
myofibrillar myopathy
is_a
MONDO:0100150
RYR1-related myopathy
is_a
MONDO:0100196
TPM2-related myopathy
is_a
CCD
related
Shy-Magee syndrome
related
central CORE disease of muscle
related
central core disease
exact
muscle core disease
related
muscular central core disease
related
myopathy, central core
related
myopathy, central fibrillar
related
neuromuscular disease, congenital, with uniform type 1 Fibre
related