Myopathy with congenital joint contractures, ophthalmoplegia and rimmed vacuoles (medical condition)

A very rare, dominantly inherited genetic disorder involving progressive muscle weakness and wasting, joint contractures at birth and ophthalmoplegia. Muscle function problems usually don't start until the 4th or 5th decade of life. See also Inclusion body myopathy 3, autosomal dominant

Chemwatch
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