eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gne myopathy |
| Comorbidity | C0029401|paget disease |
| Sentences | 4 |
| PubMedID- 24838343 | Its dominant mutations cause hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) or amyotrophic lateral sclerosis. |
| PubMedID- 23169451 | Introduction: mutations in the valosin-containing protein (vcp) gene cause hereditary inclusion body myopathy (ibm) associated with paget disease of bone (pdb), and frontotemporal dementia (ftd). |
| PubMedID- 25884947 | Mutations in the valosin containing protein (vcp) gene cause hereditary inclusion body myopathy (hibm) associated with paget disease of bone (pdb), frontotemporal dementia (ftd), more recently termed multisystem proteinopathy (msp). |
| PubMedID- 25698929 | However, p97 dysfunction was recently linked to some forms of amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and a connection to failed mitochondrial quality control was suspected (yamanaka et al., 2012). |
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