Figure 4.

(A) Immunoblotting using an anti‐FHL1 antibody for labeling of muscle tissue extracts. The major isoforms are marked by black arrows and the apparent molecular masses are given. In preparations of the skeletal muscle (SKM) or the left ventricular myocardium (LV) of the index patient (I) FHL1 was not detectable. The molecular mass of the putative truncated peptide, as predicted from sequencing results (9.7 kDa), is marked by a gray arrow. Protein extracts of controls (C) for SKM or LV were used as a reference. (B) Immunohistochemistry of FHL1 in SKM (b) or LV (a, c, d), respectively, using diaminobenzidine as a substrate for HRP staining. Of note, FHL1‐staining was not detectable in the index patient (III‐9; b + d) but in the control tissue (a + c). Bar = 20 µm