PMC8450528_01
Photographs of the proband at 10 years old. (A, B) The proband presented with obvious limb muscular atrophy and waddling gait. A neurological examination showed proximal muscle weakness.
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F1
Physical examination showed proximal muscular atrophy of both limbs (Figure 1A). Physical examination found obvious scoliosis and atrophy of the limb muscle (Figure 1B).
The complete eight-generational Chinese pedigree. The proband affected by ITGA7 is indicated with an arrow and a dark box.
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F2
Their parents had no symptoms and Sanger sequencing confirmed that they have heterozygous mutation in ITGA7 (Figures 2, 3).
Molecular analysis of ITGA7 gene mutation. Mutation analysis of the ITGA7 gene. Red arrowhead marks the sites of base alterations. The DNA sequences of the family subjects are shown; the pedigree number is indicated on the left.
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F3
Their parents had no symptoms and Sanger sequencing confirmed that they have heterozygous mutation in ITGA7 (Figures 2, 3).