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. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204

Figure 2. Pedigree of patients IIa and IIb.

Figure 2

Segregation of the TTN Iberian tibial muscular dystrophy variant, p.(Lys35963Asnfs*), and deletion in the TTN (exons 34–41) in the family of patients IIa and IIb. The affected brothers IIa and IIb (black squares) are compound heterozygous for the variants. Their healthy parents and siblings are heterozygous for only one of the variants. Genetic findings are described using the reference transcript NM_001267550.1 for TTN.