Rui Wu Sai Shao Ling Yin Jianwen Deng Shougang Guo Lin Lu
10.3389/fneur.2023.1043136
Front Neurol
2023 Mar 14;14:1043136.
sqstm1 frameshift mutation multisystem proteinopathy myopathy rimmed vacuoles
CC BY
https://pubmed.ncbi.nlm.nih.gov/36998782/
PMC10043206
36998782
Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report
2023