cap myopathy
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
MONDO:0100084
alpha-actinopathy
is_a
MONDO:0100108
TPM3-related myopathy
is_a
Cap disease
exact
congenital myopathy with caps
related