WormBase Tree Display for DO_term: DOID:0080991
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| DOID:0080991 | Name | congenital myopathy 1B | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | multiminicore disease | |||
| Parent | Is_a | DOID:0081337 | |||
| DB_info | Database | OMIM | disease | 255320 | |
| Attribute_of | Gene_by_orthology | WBGene00006801 |
