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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Hum Mutat. 2019 Feb 28;40(5):619–630. doi: 10.1002/humu.23720

Figure 5. Patient fibroblasts from Family 1 and Family 2 exhibit the characteristic vacuolization caused by deleterious variants of FIG4.

Figure 5.

A) Live cell microscopy of cultured fibroblasts from affected individuals. B) Quantitation of the extent of vacuolization. Values represent means ± SD.