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. 2010 Dec 13;191(6):1049–1060. doi: 10.1083/jcb.201007028

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© 2010 Cabianca and Gabellini

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Figure 2. — FSHD is caused by a reduction in the copy number of D4Z4 repeats. (A) Healthy individuals carry 11–150 units of D4Z4. (B) FSHD patients have less than 11 repeats. (C) At least one copy of D4Z4 is required for FSHD development, as individuals completely lacking D4Z4 are healthy. (D) Patients having a large deletion encompassing FRG2 and DUX4c have been described, indicating that these genes are not necessary for FSHD. Dotted lines indicate that distances are not to scale.