Myopathy, proximal, and ophthalmoplegia
Myopathy, proximal, and ophthalmoplegia
Definition
Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance.
Also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, myopathy, proximal, and ophthalmoplegia — per MONDO