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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

✍ Scribed by Fatemeh Geranmayeh; Emma Clement; Lucy H Feng; Caroline Sewry; Judith Pagan; Rachael Mein; Stephen Abbs; Louise Brueton; Anne-Marie Childs; Heinz Jungbluth; Christian G De Goede; Bryan Lynch; Jean-Pierre Lin; Gabriel Chow; Carlos de Sousa; Olivia O’Mahony; Anirban Majumdar; Volker Straub; Katherine Bushby; Francesco Muntoni


Book ID
116794366
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
573 KB
Volume
20
Category
Article
ISSN
0960-8966

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✍ Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 455 KB

Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been