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

• OMIM:619040

Ontology

Human Disease   ( DOID:0112108 )