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ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 9
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Accession:DOID:0111188 term browser browse the term
Definition:An autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue. MFM9 is caused by heterozygous mutation in the protein kinase domain of titin (TTN) on chromosome 2q31. (OMIM)
Synonyms:exact_synonym: Edstrom Myopathy;   HIBM-ERF;   HMERF;   Hereditary Myopathy with Early Respiratory Failure;   MFM-titinopathy;   MFM9;   MPRM;   Myofibrillar Myopathy 9 with Early Respiratory Failure;   distal myopathy with early respiratory failure, autosomal dominant;   hereditary inclusion body myopathy with early respiratory failure;   myofibrillar myopathy-titinopathy;   proximal myopathy with early respiratory muscle involvement
 primary_id: MESH:C564377;   MESH:C566343
 alt_id: OMIM:603689
 xref: GARD:12591;   ORDO:178464
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myofibrillar myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      congenital structural myopathy 130
        myofibrillar myopathy 54
          myofibrillar myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            neuromuscular disease 1578
              muscular disease 1019
                muscle tissue disease 703
                  atrophic muscular disease 283
                    muscular dystrophy 281
                      distal myopathy 27
                        myofibrillar myopathy 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.