FIGURE

Figure 2

ID

ZDB-FIG-251127-52

Publication

Dominik et al., 2025 - Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

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Figure 2

Genetic and clinical presentation of individuals harboring ARHGAP19 variants.

(A) Pedigrees of affected families showing segregation of the biallelic ARHGAP19 variants identified. Clinical images presenting the spectrum of disease severity in (B) P1 (F1-II:1), (C) P3 (F3-II:1) (D) P10 (F9-II:4) (E) P2 (F2-II:5) (F) P17 (F15-II:3) (G) P20 (F18-II:1) (H) P22 (F21-II:2) and (I) P23 (F21-II:3), with predominant distal lower limb wasting, foot deformity, relatively mild thinning of intrinsic hand muscles and prominent sandal gap (except P17 (F15-II:3) who presented with acute left-hand weakness and still has upper limb–predominant disease).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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