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Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

✍ Scribed by Takahashi, Yoshie; Rouan, Fatima; Uitto, Jouni; Ishida-Yamamoto, Akemi; Iizuka, Hajime; Owaribe, Katsushi; Tanigawa, Mizuko; Ishii, Norito; Yasumoto, Shinichiro; Hashimoto, Takashi


Book ID
119293006
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
260 KB
Volume
37
Category
Article
ISSN
0923-1811

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Plectin deficiency leads to both muscula
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Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (__PLEC__) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with py