Figure 2

Imaging of dysferlin in bioptic samples of musculus soleus. (A) Confocal imaging of dysferlin in transversal and longitudinal sections prepared from biopsies of the musculus soleus of the MMD patient (F: VII), the healthy heterozygote carrying mutation DYSF c.2864 + 1dupG (F: V), and the healthy heterozygote carrying mutation DYSF c.4076 T > C (P1: I). The red signal corresponds to dysferlin, the green to actin, and the blue to the nucleus. (B) The left panel depicts a quantitative comparison of the strengths of the dysferlin signal in samples from the m. soleus of the MMD patient (F: VII, red), the healthy heterozygote carrying mutation DYSF c.2864 + 1dupG (F: V, green), and the healthy heterozygote carrying mutation DYSF c.4076 T > C (P1: I, turquoise). The right panel depicts a quantitative comparison of the strengths of the dysferlin signal normalized to the signal of actin in the same samples. (C) Hematoxylin and eosin and anti-dysferlin immunohistochemical staining of m. soleus biopsy sections from MMD patient (F: VII) and unrelated control proband. Magnification is indicated. Abbreviations: MMD, Miyoshi myopathy/dysferlinopathy.