PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0338451|frontotemporal dementia |
| Sentences | 6 |
| PubMedID- 24348398 | Psychiatric presentation of frontotemporal dementia associated with inclusion body myopathy due to the vcp mutation (r155h) in a french family. |
| PubMedID- 26544960 | Mutations in vcp have been linked to severe degenerative disorders including inclusion body myopathy with frontotemporal dementia (ibmpfd) [23] and amyotrophic lateral sclerosis [21]. |
| PubMedID- 23606855 | In this autosomal dominant disease, inclusion-body myopathy is associated with frontotemporal dementia and is caused by mutations in the valosin containing protein gene. |
| PubMedID- 23455423 | Inclusion body myopathy with frontotemporal dementia (ftd), paget’s disease of bone and amyotrophic lateral sclerosis (als) (sometimes called “ibmpfd/als”) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone accompanied by prominent tdp-43 pathology1. |
| PubMedID- 23629963 | Mutations in the prion-like domains of hnrnpa1 and hnrnpa2/b1 cause familial forms of inclusion body myopathy with frontotemporal dementia, paget’s disease of bone, and als (sometimes called “ibmpfd/als”), and mutations in the prion-like domain of hnrnpa1 are also connected with familial and sporadic als (kim et al., 2013). |
| PubMedID- 22106714 | Optn mutations also cause hereditary glaucoma and vcp causes inclusion body myopathy with frontotemporal dementia and paget's disease. |
Page: 1