A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
Figure 2
Morphology of platelet and MK cells from the proband and a control.
(A) Morphology of platelets in the bone marrow smears, which were stained with May-Grunwald Giemsa. The platelet in the proband is much larger than its normal size by reference to the red blood cells and to the control. The analysis was performed on an optical microscope (Leica DMR) with a 50×/1.40 numerical aperture oil objective lens (Leica). (B) Morphology and size (indicated by red arrows in the proband) of platelets from the peripheral blood observed by electronic microscopy (magnification of 10000×). (C) Morphology of a representative cultured MK from the bone marrow observed by electronic microscopy (magnification of 6000×). Ultrathin sections were examined by a JEM-1010 transmission electron microscope (JEOL) at an accelerating voltage of 80 kV.