Scientific Publications

FKRP related Limb-Girdle Muscular Dystrophy: A biomarker identification study., E Gicquel (Genethon) et al.

Myology 2022 Annual Meeting, Nice (France) on September 12-15, 2022


LGMD-R9 is due to mutations in the FKRP gene, encoding the Fukutin Related Protein.

FKRP is involved in α-dystroglycan (αDG) glycosylation: In this complex multi-step process, the precise function of FKRP is the addition of a ribitol-5-phosphate in the sugar chain being formed, in the Golgi apparatus. Glycosylation defects of αDG disrupt its proper binding to extra-cellular matrix (ECM) components, and therefore the link between the cytoskeleton and the ECM. Muscle fibers become less resistant to muscle contractions.