✦ LIBER ✦

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

✍ Scribed by Sofia T. Duarte; Jorge Oliveira; Rośrio Santos; Pedro Pereira; Cândida Barroso; Isabel Conceição; Teresinha Evangelista

Book ID: 102536054
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 361 KB
Volume: 44
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.22009

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A RYR1 mutation associated with recessiv

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families

✍ Danielle Carpenter; Azzam Ismail; Rachel L. Robinson; Christopher Ringrose; Patr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB

Identification of five new mutations and

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

✍ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 2 views

Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in