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. 2023 Aug 17;16:759–766. doi: 10.2147/PGPM.S416294

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© 2023 Wu et al.

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(A) Pedigree information of family 1 with DMD. The proband is marked with a black arrow. Black-filled squares represent patients. Slashes represent deceased family members. Circles with black dots represent female carriers. NA indicates the family members did not perform WES or Sanger sequencing. The numbers in parentheses represent the age of the family members. (B) Sanger sequencing results of the proband, his parents and grandparents. The red triangle indicates the mutation site (c.6963del). Both the mother and grandmother of the proband are mutant carriers.