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. Author manuscript; available in PMC: 2020 Aug 7.
Published in final edited form as: Transl Res. 2019 Feb 15;208:15–29. doi: 10.1016/j.trsl.2019.02.004

Figure 1. Clinical and genetic characteristics of family A and B with ACM.

Figure 1.

(A) Family A carrying an ILK and JUP variant (left) and family B carrying a de novo ILK variant. Squares represent males, circles females, slash across symbol denotes deceased. Black filled symbols indicate a clinical diagnosis of ACM. White filled symbols denote unaffected, whereas gray filled symbols indicate an unknown clinical status. +/− denotes heterozygous carrier status; −/− denotes non-carrier. (B) Myocardial tissue analysis of patient III-3 from family A. H&E staining (left panel) demonstrating fatty replacement of myocardium. Picro Sirius red staining (right panel) demonstrate extensive interstitial fibrosis. Scale bars represent 50 μm. (C) Sanger sequencing results of heterozygous ILK variants from genomic DNA of carriers (III-3, family A left; II-1 family B, right). (D) Conservation status of ILK amino acid sequences across species. Red squares indicate p.H33 and p.H77, the blue square p.P70; all three residues are highly conserved across species.