/myopathy, proximal, and ophthalmoplegia

myopathy, proximal, and ophthalmoplegia

Rare Disease

MONDO:0011577

Also Known As

myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuolesmyopathy, proximal, and ophthalmoplegiaproximal myopathy and ophthalmoplegiaMYPOPinclusion body myopathy 3, autosomal dominantinclusion body myopathy 3, autosomal dominant, formerly

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.