Search Ontology:
Human Disease

myofibrillar myopathy 10

Term ID
DOID:0112108
Synonyms
  • MFM10
Definition
A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. https://pubmed.ncbi.nlm.nih.gov/32779703/
References
Ontology
Human Disease   ( DOID:0112108 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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