✦ LIBER ✦

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

✍ Scribed by Eppie M. Yiu; Alfred Klausegger; Leigh B. Waddell; Nikolaus Grasern; Lyn Lloyd; Kim Tran; Kathryn N. North; Johann W. Bauer; Penelope McKelvie; C.W. Chow; Monique M. Ryan; Dedee F. Murrell

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 651 KB
Volume: 44
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.22076

No coin nor oath required. For personal study only.

📜 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 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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

Late onset oculopharyngeal muscular dyst

Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion

✍ Giovanni Piccolo; Andrea Cortese; Eleonora Tavazzi; Laura Piccolo; Jenny Sassone 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB