Guang Ji Ning Wang Xu Han Yaye Wang Jinru Zhang Yue Wu Hongran Wu Shaojuan Ma Xueqin Song
10.3389/fgene.2022.925926
Front Genet
2022 Jun 23;13:925926.
dnajb6 g/f domain lgmd1d de novo rimmed vacuoles splice-site mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/35812750/
Case Reports
PMC9259785
35812750
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient
2022