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General Information
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| Term |
congenital myopathy 1B |
ID (Ontology) |
DOID:0080991 (Human Disease) |
| 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. |
| Also Known As |
"autosomal recessive congenital myopathy 1B" ; "multiminicore disease" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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congenital myopathy 1B | 1 | for disease ribbon | congenital myopathy 1B | 1 | model of | congenital myopathy 1B | 1 |
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Relationships