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 4. Pedigree of the affected family. Uniparental isodisomy of chromosome 1q21.3- q23.1 (involving the complete LMNA gene), causing homozygosity of autosomal recessively inherited LMNA mutation, was proven for the index patient. Except for the index patient, none of the displayed individuals showed signs of progeroid disease, or signs of progressive cardiac disease. Dilated cardiomyopathy was excluded by echocardiography in individuals labeled by *.