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.
MONDO:0007827
inclusion body myositis
is_a
MONDO:0019952
congenital myopathy
is_a
MYPOP
related
inclusion body myopathy 3, autosomal dominant
related
myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
exact
myopathy, proximal, and ophthalmoplegia
exact
SPAC4A8.05c SPCC645.05c