congenital multicore myopathy with external ophthalmoplegia https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_multicore_myopathy_with_external_ophthalmoplegia https://www.malacards.org/card/congenital_myopathy_1b_autosomal_recessive multicore myopathy with external ophthalmoplegia MONDO:0009712 GARD:0010316 NANDO:2200872 UMLS:C1850674 minicore myopathy, antenatal onset, with arthrogryposis OMIM:255320 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. MEDGEN:340597 Orphanet:98905 NCIT:C150608 multiminicore myopathy RYR1-related myopathy