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last update : 11-07-2011
Symbol MMDO
Location 19q13.2
Name multiminicore disease with external ophthalmoplegia
Corresponding gene RYR1
Main clinical features neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable, associated to external ophthalmoplegia; muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed 'minicores') in most muscle fibers
Genetic determination autosomal recessive
Related entries including congenital fiber type disproportion myopathy, associated with extreme fiber size disproportion (PMID: 20583297)
Function/system disorder neuromuscular
Type disease
Gene mutationChromosome rearrangementEffectComments
other epigenetic     55p100 had monoallelic expression of RYR1 in skeletal muscle but not in other tissues