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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Fig. 4

Graphical overview of MORC2 protein structure with the localization of mutations identified in CMT2Z patients. ATPase: GHL (Gyrase B, Hsp90, and MutL)-ATPase domain at the amino-terminus; CC1, 2 and 3: coiled-coil domains; S5: ribosomal protein S5 domain; CW: CW-type finger domain; CD: Chromo- like domain. Red boxes: mutations were identified in this study, red words indicated a novel mutation. Black triangles: mutations showed late onset or early onset axonal CMT; Black squares: mutations showed congenital or early onset SMA-like syndromes; Black pentacles: axonal neuropathy plus CNS symptoms; Black hexagons: axonal neuropathy plus multisystemic disorders; Red triangles and red hexagon: phenotypes were described in this study

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172