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. 2013 Mar 12;80(11):1033–1040. doi: 10.1212/WNL.0b013e31828726a7

Figure 1. Families with POLD and CSF1R mutations.

Figure 1

Shown are abbreviated pedigrees of 2 families, family FTD368 (A) and family 5901 (B) affected by pigmented orthochromatic leukodystrophy (POLD) included in this study. Gray-filled symbols represent clinically affected individuals, whereas black-filled symbols represent individuals with pathologically confirmed POLD. The proband of each family is indicated with an arrowhead. Cases for which DNA was available for genetic studies are noted with an asterisk. DNA sequence traces observed in a sample from the proband from each family are shown below each pedigree. The single base substitution in each trace is indicated with an arrow.