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Figure 2 | BMC Medical Genetics

Figure 2

From: A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

Figure 2

PLNc.26G > T :p.Arg9Leu andDES:c.665G > A:(p.Arg222His) variants IGV view ofPLNc.26G > T :p.Arg9Leu variant found by whole exome seguencing (A), pedigree of the family (B) and chromatograms from direct sequencing by the Sanger method showing thePLNp.Arg9Leu variant (C) andDESArg222His variant (D) in the proband. Pedigree: squares represent males and circles represent females. An arrowhead denotes the proband. A diagonal line marks deceased individuals. Solid black symbols denote dilated cardiomyopathy and grey shading sudden death. Open symbols with asterisk denote unaffected individuals. The presence or absence of a mutation is indicated by a +/− symbol, respectively (top PLN Arg9Leu variant, bottom DES Arg222His variant).

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BMC Medical Genetics

ISSN: 1471-2350

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