Visualize Submit Comment

Metadata
ID	DOID:0112108
Name	myofibrillar myopathy 10
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/
Xrefs	MIM:619040
Synonyms	MFM10 [EXACT]
Parent Relationships	is_a myofibrillar myopathy is_a autosomal recessive disease