Frameshift mutation in sqstm1 causes proximal myopathy with rimmed vacuoles: a case report

HIGHLIGHTS

• who: Rui Wu from the University of Siena, Italy have published the Article: Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report, in the Journal: (JOURNAL)
• what: Frontiers in Neurology frontiersin.org 10.3389/fneur.2023.1043136 This study was approved by the Ethics Committee of the Shandong Provincial Hospital, Jinan, Shandong, China, and was conducted in accordance with the Declaration of Helsinki.
• future: The authors speculate that the SQSTM1 variations encoding truncated proteins could cause a dominant-negative effect and are less likely to be modified by other . . .
  

   

  

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