multiminicore disease with external ophthalmoplegia (MMDO, MMD)
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Pathology
- muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization & mitochondria depletion (areas termed minicores) in most muscle fibers
- typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis
Genetics
- associated with defects in RYR1
Clinical manifestations
- clinically heterogeneous
- neonatal hypotonia
- delayed motor development
- generalized muscle weakness
- amyotrophy
- may progress slowly or remain stable