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Figure legends
Figure 1. Immunohistochemical staining of skeletal muscles of (a–g) Patients 1-9 and
control (j) with antibodies directed toward the glycosylated alpha-dystroglycan. Scale
bars (yellow and red) indicate 50 µm and 20 µm, respectively.
28
Table legends
Table 1. Summary of the clinical features of patients with FKRP mutations. CK,
creatine kinase; WB, western blot; IHC, immunohistochemistry; LOA, laminin overlay
assay; ND, no data; VC, vital capacity; FEV, forced expiratory volume; NPPV,
non-invasive positive pressure ventilation; M, male; F, female
Table 2. FKRP mutations were identified in this study and the results of in silico
analysis for missense mutations. ACMG, American College of Medical Genetics and
Genomics; MDC1C, Congenital muscular dystrophy type 1C; LGMD2I, limb-girdle
muscular dystrophy 2I. Empty space indicates that no analysis was performed.
29
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