OBO ID: DOID:0080991
Term Name: congenital myopathy 1B Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080991 )
Relationships
is a type of:
OTHER congenital myopathy 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RYR1 Congenital myopathy 1B, autosomal recessive 255320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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