Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 1B
DOID:0080991
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 1B

Definition
A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
Synonyms
  • multiminicore disease
Cross References
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