Article
Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.
Annals of clinical and translational neurology - 1 Sept 2026
Luce Leonela, Kocak Goknur Selen, Verdú-Díaz José, Alonso-Pérez Jorge, Claeys Kristl G, Stojkovic Tanya, Fernández-Eulate Gorka, Laforêt Pascal, Miladi Najoua, Di Pace Filipe, Moreno Cristiane Araujo Martins, Zanoteli Edmar, Weihl Conrad C, Straub Volker, Töpf Ana, Díaz-Manera Jordi
Abstract excerpt
OBJECTIVE: Sarcoglycanopathies are among the most severe limb-girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype-phenotype correlations. This study aimed to establish accurate...
Read the complete abstract on PubMedTopics
- Humans
- Sarcoglycanopathies
- Genetic Association Studies
- Female
- Male