𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

✍ Scribed by Karine Nguyen; Guillaume Bassez; Rafaëlle Bernard; Martin Krahn; Véronique Labelle; Dominique Figarella-Branger; Jean Pouget; El Hadi Hammouda; Christophe Béroud; Andoni Urtizberea; Bruno Eymard; France Leturcq; Nicolas Lévy


Book ID
102265890
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
19 KB
Volume
26
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Dysferlin mutations in LGMD2B, Miyoshi m
✍ Karine Nguyen; Guillaume Bassez; Rafaëlle Bernard; Martin Krahn; Véronique Label 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB

DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF. D