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Article

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

Muscle & nerve - 1 Jan 2007

McMillan J R, Akiyama M, Rouan F, Mellerio J E, Lane E B, Leigh I M, Owaribe K, Wiche G, Fujii N, Uitto J, Eady R A J, Shimizu H

Abstract excerpt

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD, MIM 226670) is caused by plectin defects. We performed mutational analysis and immunohistochemistry using EBS-MD (n = 3 cases) and control skeletal muscle to determine pathogenesis. Mutational analysis revealed a novel homozygous plectin-exon32 rod domain mutation (R2465X). All plectin/HD1-121 antibodies stained the control skeletal muscle membrane....

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PMID: 16967486
DOI: 10.1002/mus.20655

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