/congenital multicore myopathy with external ophthalmoplegia

congenital multicore myopathy with external ophthalmoplegia

Rare Disease

MONDO:0009712

Also Known As

minicore myopathy, antenatal onset, with arthrogryposisminicore myopathyminicore myopathy with external ophthalmoplegiamulticore myopathymulticore myopathy with external ophthalmoplegiamultiminicore disease with external ophthalmoplegiamultiminicore myopathy multicore myopathy with external ophthalmoplegia

Definition

An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.