case_images: PMC8450528_01
case_images: 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.
case_images: fgene-12-706823-g0001.jpg
case_images: PMC8450528_01_fgene-12-706823-g0001.jpg
case_images: F1
case_images: Physical examination showed proximal muscular atrophy of both limbs (Figure 1A). Physical examination found obvious scoliosis and atrophy of the limb muscle (Figure 1B).
case_images: The complete eight-generational Chinese pedigree. The proband affected by ITGA7 is indicated with an arrow and a dark box.
case_images: fgene-12-706823-g0002.jpg
case_images: PMC8450528_01_fgene-12-706823-g0002.jpg
case_images: F2
case_images: Their parents had no symptoms and Sanger sequencing confirmed that they have heterozygous mutation in ITGA7 (Figures 2, 3).
case_images: 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.
case_images: fgene-12-706823-g0003.jpg
case_images: PMC8450528_01_fgene-12-706823-g0003.jpg
case_images: F3
case_images: Their parents had no symptoms and Sanger sequencing confirmed that they have heterozygous mutation in ITGA7 (Figures 2, 3).