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. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050

Figure 2.

Figure 2

Genotype and phenotype of Charcot-Marie-Tooth (CMT) patients from this study (A), and CMT patients reviewed from the literature (B). (A) Variants identified in 67 CMT patients (blue: copy number variation 38.8%; orange: MPZ mutation 1.5%; gray: HSPB1 mutation 1.5%; light yellow: MFN2 mutation 1.5%; light blue: KIF1A mutation 1.5%; green: GAPD1 mutation 1.5%; dark blue: MTMR2 mutation 1.5%; brown: KIF5A mutation 1.5%; dark gray: SH3TC2 mutation 1.5%; yellow: no cause detected 41.8%; and dark green: uncertain pathogenetic 7.4%). (B) This graphic compares detection yield in CMT phenotypes obtained from the literature. (light yellow: CMT1; orange: CMT2; gray: CMT4; light blue: CMTX; green: HMSN; and blue: undiagnosed). Bar 1: data obtained in this study; Bar 2: data obtained from three Italian studies; and Bar 3: data obtained from 20 European studies (see Supplementary Material).