Article
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Annals of clinical and translational neurology - 1 Sept 2024
Mohan Shruthi, McNulty Shannon, Thaxton Courtney, Elnagheeb Marwa, Owens Emma, Flowers May, Nunnery Teagan, Self Autumn, Palus Brooke, Gorokhova Svetlana, Kennedy April, Niu Zhiyv, Johari Mridul, Maiga Alassane Baneye, Macalalad Kelly, Clause Amanda R, Beckmann Jacques S, Bronicki Lucas, Cooper Sandra T, Ganesh Vijay S, Kang Peter B, Kesari Akanchha, Lek Monkol, Levy Jennifer, Rufibach Laura, Savarese Marco, Spencer Melissa J, Straub Volker, Tasca Giorgio, Weihl Conrad C
Abstract excerpt
OBJECTIVE: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD....
Topics
- Humans
- Muscular Dystrophies, Limb-Girdle
- Collagen Type VI
- Muscle Proteins
- Phenotype
- Data Curation
- Calpain