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Figure 1 | BMC Genetics

Figure 1

From: CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Figure 1

Haplotype analysis of pedigrees BJ, CZ, AG, AJ, AH, T, CT, BC, and E at the FEOM1 locus. Black symbols denote those individuals who are clinically affected with classic CFEOM. Genotyping data and schematic segregating haplotype bars for chromosome 12cen markers are shown below the symbol for each study participant. Allele sizes here and in figure 2 were assigned as linkage studies were performed are not equivalent when compared between families. Black bars denote the potential disease-associated region. Diagonally hatched or white bars highlight the inheritance of the non-disease-associated haplotypes. References to specific individuals within the text refer to the generation number (Roman numeral) and position within generation (Arabic numeral). In all 9 pedigrees each family's disease-associated haplotype is inherited by all CFEOM1 individuals and by no asymptomatic individuals.

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