| Metadata | |
|---|---|
| ID | DOID:0080991 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/11731287/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
multiminicore disease [EXACT] |
| Parent Relationships |
is_a congenital myopathy |