A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping

• Main Authors: Alexis R. Demonbreun (Author), Eugene J. Wyatt (Author), Katherine S. Fallon (Author), Claire C. Oosterbaan (Author), Patrick G. Page (Author), Michele Hadhazy (Author), Mattia Quattrocelli (Author), David Y. Barefield (Author), Elizabeth M. McNally (Author)
• Format: Book
• Published: The Company of Biologists, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Limb-girdle muscular dystrophy type 2C is caused by autosomal recessive mutations in the γ-sarcoglycan (SGCG) gene. The most common SGCG mutation is a single nucleotide deletion from a stretch of five thymine residues in SGCG exon 6 (521ΔT). This founder mutation disrupts the transcript reading fram...