Figure 4
Genotype-physical impact correlation in 29 patients with CMT2A due to pathogenic and likely pathogenic variants at the p.Arg94– amino acid position. Each horizontal set of data-points plotted over time (age in years) corresponds to one of the 29 patients (1–29 on the y-axis). Patients 1–16 carry the p.Arg94Trp variant, Patient 17 carries the p.Arg94Leu variant, Patients 18 and 19 carry the p.Arg94Gly variant, and Patients 20–29 carry the p.Arg94Gln variant. In each set of data-points, the red square represents the age at which the patient was first seen and enrolled in the study (baseline visit): the dashed line to its left represents retrospective information gathered by history and the solid line to its right represents prospective information gathered during the entirety of the study. The green diamond represents the last age with available clinical data. Most of the patients have only been seen once and hence the red square and green diamond coincide. The blue circle represents the age of onset of symptoms in the patient, the yellow triangle represents the age at which ankle-foot orthoses were needed and prescribed, the purple star represents the age at which walking aids (stick, walker) were required and the blue cross represents the age at which the patient reverted to the regular use of a wheelchair.

Genotype-physical impact correlation in 29 patients with CMT2A due to pathogenic and likely pathogenic variants at the p.Arg94– amino acid position. Each horizontal set of data-points plotted over time (age in years) corresponds to one of the 29 patients (1–29 on the y-axis). Patients 1–16 carry the p.Arg94Trp variant, Patient 17 carries the p.Arg94Leu variant, Patients 18 and 19 carry the p.Arg94Gly variant, and Patients 20–29 carry the p.Arg94Gln variant. In each set of data-points, the red square represents the age at which the patient was first seen and enrolled in the study (baseline visit): the dashed line to its left represents retrospective information gathered by history and the solid line to its right represents prospective information gathered during the entirety of the study. The green diamond represents the last age with available clinical data. Most of the patients have only been seen once and hence the red square and green diamond coincide. The blue circle represents the age of onset of symptoms in the patient, the yellow triangle represents the age at which ankle-foot orthoses were needed and prescribed, the purple star represents the age at which walking aids (stick, walker) were required and the blue cross represents the age at which the patient reverted to the regular use of a wheelchair.

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