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Fig. 1. Genetic and pathological findings of the proband and his
parents.
(A) Pedigree of the family with UCMD. The black arrow denotes the
proband. B and C indicate the partial DNA sequence chromatograms of
splice site mutation in COL6A2. (B) The frameshift mutation
(c.1970-10_1978delCGGCTTGCAGGGACGCGTG) in the proband and his mother.
(C) The splice site mutation (c.2462-3C>A) in the proband
and his father. The black arrows denote the mutation site. (D) Partial
RNA sequence chromatograms of the frameshift mutation in COL6A2 show a
23 bp-deletion (GGACGCGTGTGGGCGTGGTGCAG) compared to wild-type. The
black arrow indicates the start of the deletion site. (E) Hematoxylin
and eosin staining results demonstrate that part of the muscle fiber is
replaced with connective and adipose tissues; the sizes are
significantly different in the remaining myofibers. Fragmenting and
hypercontracted myofibers are visible. The number of fibers with
internal nuclei and nuclear bags were evidently increased. (F) The
immunohistochemical results indicate that the staining of myofiber
membranes is diffusely weakened and even absent (100 μm).