Multisystem proteinopathy: genetics
Evidence-based neurology checklist on multisystem proteinopathy: genetics: VCP mutation This is the valosin-containing protein (VCP) gene The transmission is autosomal dominant The mutation causes autophagy and abnormal vacuolisation It affects muscles, nerves, and bones It is adult onset Other…
VCP mutation
- This is the valosin-containing protein (VCP) gene
- The transmission is autosomal dominant
- The mutation causes autophagy and abnormal vacuolisation
- It affects muscles, nerves, and bones
- It is adult onset
Other mutations
Synonym
References
- Guo X, Zhao Z, Shen H, Qi B, Li N, Hu J. VCP myopathy: a family with unusual clinical manifestations. Muscle Nerve 2019; 59:365-369.
- Palmio J, Sandell S, Suominen T, et al. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord 2011; 21:551-555.
- Vesa J, Su H, Watts GD, et al. Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord 2009; 19:766-772.
- Al-Tahan S, Al-Obeidi E, Yoshioka H, et al. Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscul Disord 2018; 28:491-501.
- Korb M, Peck A, Alfano LN, et al. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis 2022; 17:23.
