Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy
Monarch Disease Ontology release 2018-06-29
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.