𝔖 Bobbio Scriptorium
✦   LIBER   ✦

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

✍ Scribed by K. Spengos; M. C. Walter; G. Dekomien; K. Papadopoulos; H. Lochmüller; P. Manta

Book ID
111066327
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
58 KB
Volume
17
Category
Article
ISSN
1351-5101

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

C283Y mutation and other C-terminal nucl
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population
✍ Albena Todorova; Angel Ashikov; Olga Beltcheva; Ivailo Tournev; Ivo Kremensky 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB

## Communicated by Jürgen Horst Sarcoglycanopathies, affecting the dystrophin-associated sarcoglycan (SG) complex, are a heterogeneous group of neuromuscular disorders. A subgroup of these disorders, limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive disorder, clinically man

C283Y mutation and other C-terminal nucl
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population
✍ Albena Todorova; Angel Ashikov; Olga Beltcheva; Ivailo Tournev; Ivo Kremensky 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB

The authors wish to correct a mistake in the amino acid change stemming from a 490C>T nucleotide change. In this article, the nucleotide change is stated to lead to a Q165X amino acid change. The 490C>T nucleotide change should actually cause a Q164X amino acid change.