✦ LIBER ✦

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

✍ Scribed by Peter Reilich; Sabine Krause; Nicolai Schramm; Ursula Klutzny; Stefanie Bulst; Barbara Zehetmayer; Peter Schneiderat; Maggie C. Walter; Benedikt Schoser; Hanns Lochmüller

Book ID: 106095253
Publisher: Springer
Year: 2011
Tongue: English
Weight: 977 KB
Volume: 258
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-011-5953-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe limb girdle muscular dystrophy in

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

✍ Lasa, Adriana; Piccolo, Federica; de Diego, Carles; Jeanpierre, Marc; Colomer, J 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 140 KB

Identification of lamin A/C (LMNA) gene

Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B

✍ C.-S. Ki; J.S. Hong; G.-Y. Jeong; K. J. Ahn; K.-M. Choi; D.-K. Kim; J.-W. Kim 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 101 KB

A gene related to Caenorhabditis elegans

✍ Bushby, Kate; Bashir, Rumaisa; Britton, Stephen; Strachan, Tom; Keers, Sharon; V 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 483 KB

Malignant mutation in the lamin A/C gene

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

✍ Loizos Antoniades; Christos Eftychiou; Theodoros Kyriakides; Kyproula Christodou 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 303 KB

A new form of autosomal dominant limb-gi

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21

✍ Starling, Alessandra; Kok, Fernando; Passos-Bueno, Maria Rita; Vainzof, Mariz; Z 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 50 KB

A new form of autosomal dominant limb-gi

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21

✍ Starling, Alessandra; Kok, Fernando; Passos-Bueno, Maria Rita; Vainzof, Mariz; Z 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 184 KB