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. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9

Fig. 1. Pedigree tree and genetic analysis of Lafora disease family.

Fig. 1

a Pedigree tree of the LD family; III-4 (black arrow) is the proband. Her younger sister (III-5) also showed similar symptoms when she was 11 years old. Filled symbols represent individuals with LD. Genotypes of the NHLRC1 variants are shown below each tested individual. Plus sign (+) indicates wild type. b Electropherograms of the proband (III-4), her younger sister (III-5), and their parents (II-3, 4). The proband and her younger sister had a homozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant. Their parents had a heterozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant