Myopathy, proximal, and ophthalmoplegia

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, MYPOP, inclusion body myopathy 3, autosomal dominant, inclusion body myopathy 3, autosomal dominant, formerly

49 clinical trials for this condition and its sub-types.