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59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

✍ Scribed by Eppie M. Yiu; Alfred Klausegger; Leigh Waddell; Kim Tran; C.W. Chow; Kathryn North; Dedee Murrell; Monique M. Ryan

Book ID
116675822
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
36 KB
Volume
17
Category
Article
ISSN
0967-5868

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πŸ“œ SIMILAR VOLUMES

Plectin deficiency leads to both muscula
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex
✍ Ken Natsuga; Wataru Nishie; Satoru Shinkuma; Ken Arita; Hideki Nakamura; Makiko πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 477 KB

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