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. 2023 Jun 6;24(12):9786. doi: 10.3390/ijms24129786

Figure 1.

Figure 1

Clinical features of the proband: kyphoscoliosis, lower leg and hand muscle atrophy, hand joint contractures (A); genealogy (B); clinical features of the proband’s sister: mild hypotrophy of hand and foot muscles bilaterally, mild scoliosis (C).