FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term myofibrillar myopathy 6 ID (Ontology) DOID:0080097 (Human Disease)
Definition A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
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 Genes
 myofibrillar myopathy 6       1
 for disease ribbon | myofibrillar myopathy 6       1
 model of | myofibrillar myopathy 6       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__myofibrillar myopathy_______|
                                myofibrillar myopathy 6  1 rec.
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Is a autosomal dominant disease
myofibrillar myopathy
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Synonyms
  • "BAG3-related myofibrillar myopathy" RELATED
Secondary IDs
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MIM:612954