Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness


Johnson K., Bertoli M., Phillips L., Topf A., Van den Bergh P., Vissing J., ...More

SKELETAL MUSCLE, vol.8, 2018 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8
  • Publication Date: 2018
  • Doi Number: 10.1186/s13395-018-0170-1
  • Journal Name: SKELETAL MUSCLE
  • Journal Indexes: Science Citation Index Expanded, Scopus

Abstract

Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of alpha-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration.