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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

Fig. 1

a The family pedigree is depicted. The proband (shown by arrow, II2) and her dizygotic twin sister (II3) were homozygous for the NM_000363.4:c.586G > C variant and displayed the phenotype of restrictive cardiomyopathy (RCM). Their brother (II1) also homozygous for the same variant displayed the phenotype of hypertrophic cardiomyopathy (HCM). Their children, with age range from 5 to 21 years old (III1: 5, III2: 13, III3 and III4: 21), remain unaffected along with the proband’s parents who were found heterozygous for the same mutation. Circle = female. Square = male. Filled symbols = affected individuals. b Electropherogram of the involved sequence fragment of the TNNI3 for the members of the family. The detected mutation is highlighted

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BMC Medical Genetics

ISSN: 1471-2350

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