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Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel.

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Presentation on theme: "Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel."— Presentation transcript:

1 Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein (A) The ACC1 family pedigree is shown with affected individuals shaded in black and unaffected individuals in white. A dot in the pedigree symbol indicates an unaffected carrier. The proband is indicated by an arrowhead. Family members whose DNA was tested are indicated by an asterisk. Homozygosity for the adenosine monophosphate deaminase 2 (AMPD2) mutation segregated with disease in all family members tested. (B) Immunoblot analysis with an AMPD2-specific antibody identified a ∼100-kDa protein in control fibroblasts (C1, C2) and control lymphoblasts (C3, C4) that was absent in extracts derived from affected individuals II-5 (fibroblasts) and II-2 (lymphoblasts). An antibody directed against β-actin confirmed equivalent protein loading. Ashley P.L. Marsh et al. Neurol Genet 2015;1:e16 © 2015 American Academy of Neurology

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Copyright © 2001 American Medical Association. All rights reserved.
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