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BIS- Mid

*. BSP primers. A. BIS- Mid. BIS-5 ’. I-I2-2 RU. BIS-3 ’. 46%. 68%. 71%. C-II1-5 RU. 61%. 55%. 76%. F-I2-7 RU. 65%. 69%. 60%. B-II1-8 RU. D4Z4. 65%. 62%. 76%. GA11-10 RU. hhspm3. DUX4. LSau. A. 36%. 70%. 54%. K-II2-10 RU. 59%. 69%. 66%. K-II1-10 RU. 58%. 55%.

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BIS- Mid

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  1. * BSP primers A BIS-Mid BIS-5’ I-I2-2 RU BIS-3’ 46% 68% 71% C-II1-5 RU 61% 55% 76% F-I2-7 RU 65% 69% 60% B-II1-8 RU D4Z4 65% 62% 76% GA11-10 RU hhspm3 DUX4 LSau A 36% 70% 54% K-II2-10 RU 59% 69% 66% K-II1-10 RU 58% 55% 72% K-I1-10 RU 65% 59% 62% B FSHD2-MC 65% 63% 63% FSHD2-PM 42% 62% 49% FSHD2-Q-I1 43% 69% 51% FSHD2-Q-II1 40% 60% 49% Gaillard et al. figure e2.

  2. Figure e-2: Sodium bisulfite sequencing in individuals affected with FSHD. The position of the three different regions analyzed within D4Z4 is indicated above the corresponding column (from left to right, BIS-5’, BIS-Mid and BIS-3’). Each row of dots corresponds to a cloned DNA molecule. Black dots correspond to methylated CpG, white dots to unmethylatedCpGs and absence of dot represents sequence variation compared to the reference sequence. The percentage of methylated CpG among all CpGs/individual analyzed is given below each sample. A. For FSHD1, 8 samples were analyzed. Except for sample GA10 (table e2), all samples are affected carriers of the different families described in table e4. The number of repeat is indicated for each sample. B. Sodium bisulfite sequencing in phenotypic FSHD (FSHD2).For individuals with phenotypic FSHD (FSHD2), 4 samples were investigated. Individuals FSHD2-Q-I1; FSHD2-Q-II1 are members of the same family (Q; table e4).

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