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. 2017 Sep 25;127(11):3923–3936. doi: 10.1172/JCI95442

Figure 1. Pedigrees of the CMM families and distribution of the mutations in NTN1.

Figure 1

(A) Family 1 (from France) with a C601R mutation (the unusual family tree is a result of individual 1.1, who had children with 4 different women), (B) family 2 (from the United Kingdom [data were collected in New Zealand], which was previously identified as Family C in ref. 33), with an I518del mutation, and (C) a Canadian sporadic case with a C601S mutation. Black symbols represent individuals with CMM, symbols with an embedded black circle indicate asymptomatic carriers, white symbols indicate unaffected individuals, and symbols with a diagonal line represent deceased individuals. Squares represent males and circles represent females. m, mutated allele; +, WT allele. Electrophoregrams confirm the 3 NTN1 mutations obtained by Sanger sequencing. Red arrows point to sequence changes. Electrophoregrams were obtained with SeqScape software, version 2.6 (Applied Biosystems).