congenital multicore myopathy with external ophthalmoplegia
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.
MONDO:0018948
multiminicore myopathy
is_a
MONDO:0100150
RYR1-related myopathy
is_a
minicore myopathy, antenatal onset, with arthrogryposis
exact
multicore myopathy with external ophthalmoplegia
related