Article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Orphanet journal of rare diseases - 29 Jan 2022
Korb Manisha, Peck Allison, Alfano Lindsay N, Berger Kenneth I, James Meredith K, Ghoshal Nupur, Healzer Elise, Henchcliffe Claire, Khan Shaida, Mammen Pradeep P A, Patel Sujata, Pfeffer Gerald, Ralston Stuart H, Roy Bhaskar, Seeley William W, Swenson Andrea, Mozaffar Tahseen, Weihl Conrad, Kimonis Virginia
Abstract excerpt
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular...
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