congenital myopathy 1B

Term ID

DOID:0080991

Synonyms

• multiminicore 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. https://pubmed.ncbi.nlm.nih.gov/11731287/

References

• GARD:10316
• OMIM:255320
• ORDO:598

Ontology

Human Disease   ( DOID:0080991 )