FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term myofibrillar myopathy 13 with rimmed vacuoles ID (Ontology) DOID:0051045 (Human Disease)
Definition A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.
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 Genes
 myofibrillar myopathy 13 with rimmed vacuoles       6
 for disease ribbon | myofibrillar myopathy 13 with rimmed vacuoles       6
 model of | myofibrillar myopathy 13 with rimmed vacuoles       6
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__myofibrillar myopathy_______|
                                myofibrillar myopathy 13 with rimmed vacuoles  6 rec.
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Is a autosomal dominant disease
myofibrillar myopathy
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MIM:621078