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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

Fig. 1

Schematic representation of the localization of the PLEC mutations identified and clinical features of EBS-MD. a Schematic domain map of plectin and positional mapping of the EBS-MD mutations studied in this work. The tripartite structure of the plectin molecule comprises a central, α-helical rod domain (blue), which is flanked by N- and C-terminal globular domains. The N-terminal domain harbors an actin-binding domain (ABD, yellow) and a plakin domain (green), whereas the C-terminal domain consists of six highly homologous plectin repeat domains (red), harboring an intermediate filament-binding domain (IFBD) between repeat 5 and 6. Note that EBS-MD 1 is compound heterozygous, whereas EBS-MD2 and 3 are homozygous mutations. Binding sites of antibodies PN643 and #9, recognizing plectin’s N-terminal region, and GP-21 antibodies, recognizing plectin’s C-terminal region, are indicated in blue. b Large erythematous skin blister (arrow) on the proximal forearm of patient 1. c Nail dystrophy of the right index finger (arrow) and small skin blisters (arrowheads) of patient 1. d Muscle atrophy of the upper extremity in patient 1. Asterisk indicates the scar from the implantation of the cardioverter defibrillator. e Distal muscle atrophy of the lower extremities with inability to stand on heels. Note the multiple skin lesions of patient 1 (arrows)

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