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- Multisystem_proteinopathy abstract "Multisystem proteinopathy (MSP) is dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. Most MSP patients present with weakness and of these ~65% present with motor neuron involvement. Up to 30% of MSP patients may have exclusively motor neuron involvement. 50% of MSP has been linked to missense mutations affecting the valosin-containing protein (VCP) gene. Additional genes linked to MSP include HNRNPA1, HNRNPA2B1, HNRNPDL, DNAJB6, OPTN, and p62/SQSTM1. The histopathology of tissues affected by MSP include ubiquitin-positive cytoplasmic inclusions of RNA-binding proteins, such as TDP-43, hnRNPA1, hnRNPA2B1, and other components of RNA granules.".
- Multisystem_proteinopathy wikiPageID "41375255".
- Multisystem_proteinopathy wikiPageRevisionID "601272922".
- Multisystem_proteinopathy subject Category:Neurological_disorders.
- Multisystem_proteinopathy subject Category:Protein_folding.
- Multisystem_proteinopathy comment "Multisystem proteinopathy (MSP) is dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. Most MSP patients present with weakness and of these ~65% present with motor neuron involvement.".
- Multisystem_proteinopathy label "Multisystem proteinopathy".
- Multisystem_proteinopathy sameAs m.0zrv7ky.
- Multisystem_proteinopathy sameAs Q17126319.
- Multisystem_proteinopathy sameAs Q17126319.
- Multisystem_proteinopathy wasDerivedFrom Multisystem_proteinopathy?oldid=601272922.
- Multisystem_proteinopathy isPrimaryTopicOf Multisystem_proteinopathy.