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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

OMIM:619040

Synonyms

MFM10 [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal recessive disease

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