Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
J. Clin. Invest. Kobra Haghighi, et al. 111:869 doi:10.1172/JCI17892 [Go to this article.]

Figure 1
Mutation in the PLN gene and analysis of inheritance in kindred I. (a) Partial nucleotide sequences of the PLN coding region in normal subjects and in patients with dilated cardiomyopathy who were homozygous or heterozygous for the T116G transversion, which converts the codon for Leu-39 (TTA) to a stop codon (TGA). (b) Pedigree for the presence or absence of the T116G mutation in kindred I. Probands III-4 and III-6, who were homozygous for the L39stop mutation, were diagnosed with dilated cardiomyopathy and required cardiac transplantation. Squares represent males and circles represent females. A line denotes that the patient is deceased. (c) Histological analysis of explanted hearts from probands III-4 and III-6 (who were homozygous for the L39stop mutation), which were stained with Masson’s trichrome, illustrated the massive interstitial fibrosis and myocardial disarrangement (arrows). Scale bar, 50 μm.