Congenital Myopathy 1B
Disease ID: disease_node_18955
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| Dbxref | GARD:10316, MIM:255320, ORDO:598 |
|---|---|
| Subclassof | DOID_0081337 |
| Data Source | DOID |
| Synonyms | multiminicore disease |
| Doid Label | congenital myopathy 1B |
| Doid Description | 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. |
| Disease Node Id | disease_node_18955 |
| Doid Id | DOID_0080991 |
| Label | Congenital Myopathy 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)