Article
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Annals of clinical and translational neurology - 1 May 2023
Roy Bhaskar, Peck Allison, Evangelista Teresinha, Pfeffer Gerald, Wang Leo, Diaz-Manera Jordi, Korb Manisha, Wicklund Matthew P, Milone Margherita, Freimer Miriam, Kushlaf Hani, Villar-Quiles Rocio-Nur, Stojkovic Tanya, Needham Merrilee, Palmio Johanna, Lloyd Thomas E, Keung Benison, Mozaffar Tahseen, Weihl Conrad Chris, Kimonis Virginia
Abstract excerpt
Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP-associated MSP have myopathy, but there is no consensus-based guideline. The goal of this working group was to develop a best practice set of...
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