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Definition

A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.

Acronym

MYPOP

Synonyms

IBM3
Inclusion body myopathy 3
Inclusion body myopathy 3, autosomal dominant
Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
Proximal myopathy and ophthalmoplegia

 
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