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Screening of the CAPN3 gene in patients with possible LGMD2A

✍ Scribed by Martin Krahn; Rafaëlle Bernard; Christophe Pécheux; El Hadi Hammouda; Bruno Eymard; Adolfo Lopez de Munain; Anna Maria Cobo; Norma Romero; Andoni Urtizberea; France Leturcq; Nicolas Lévy; The Calpain study group of the French LGMD network

Book ID
110888186
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
287 KB
Volume
69
Category
Article
ISSN
0009-9163

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High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia
✍ T.V. Pogoda; I.N. Krakhmaleva; N.A. Lipatova; N.I. Shakhovskaya; S.S. Shishkin; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB

Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular