Research Paper Volume 5, Issue 6 pp 445—459
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C
Figure 5. LMNA-staining of skin samples taken at age of 4 (a) and 11 (b) months respectively, shows decreasing amount and signal intensity of LNMA-positive nuclei in the dermo-epidermal junction zone compared to control skin (c). As a secondary finding, the rete ridges are progressively flattened, the skin appendages are poorly developed. LMNA-staining of samples taken from esophagus (d) and skeletal muscle (e) during autopsy does not detect any LMNA signal.