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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Figure 1

Pedigree of the two families with RTT and the electrophoretograms of the MECP2 frameshift mutations. (A) Family A, the carrier mother (I:1) and her two affected children, (B) Family B, the mother (I:1) who is an obligate carrier and her four children. * Family members who have not been tested for the MECP2 mutation in question. (C) Electrophoretograms showing the mutation, c.1157_1197del41, identified in family A (D) Electrophoretograms showing the mutation, c.1159_delCCinsT, identified in family B.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172