Additional file 1: Figure S1. of Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

Sanger confirmation of the identified PLEC mutations in patient 1. Plectin mutation analyses using genomic DNA derived from patient 1 and his parents compared to a healthy control individual presenting the maternally inherited non-frameshift deletion c.2264_2266delTCT and the paternally inherited frameshift deletion c.3119_3120delAA. (TIF 1670 kb)