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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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