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Myofibrillar Myopathy 10

Disease ID: disease_node_18974

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DbxrefMIM:619040
SubclassofDOID_0080307, DOID_0050737
Data SourceDOID
SynonymsMFM10
Doid Labelmyofibrillar myopathy 10
Doid DescriptionA 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_18974
Doid IdDOID_0112108
LabelMyofibrillar Myopathy 10