Musharraf Jelani

1. Ellingwood SS, Cheng A. Biochemical and clinical aspects of glycogen storage diseases. J Endocrinol 2018;238(3):R131-41. https://doi.org/10.1530/joe-18-0120 2. Derks TGJ, Rijn M Van. Lipids in hepatic glycogen storage diseases : pathophysiology , monitoring of dietary management and future directions. J Inherit Metab Dis 2015;38(3):537-43. https://doi.org/10.1007/s10545-015-9811-2 3. D’souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, et al.

1. Introduction Laminin is a large family of heterotrimeric glycoproteins which contribute to cell adhesion, differentiation, neurite outgrowth and extracellular matrix architecture (1). Laminin subunit α2(LAMA2), belonging to the laminin family, interacts with integrin α7β1 (2, 3) and dystroglycan with the large globular(G) C-terminal domain.

1 Introduction Cone–rod dystrophy (CORD) is a prevalent type of monogenic retinal disease observed in clinical settings. The condition is primarily characterized by atypical or predominantly atypical cone cell functionality, accompanied by various levels of atypical rod cell functionality. Its occurrence is estimated to be approximately 1 in 40,000 individuals (Thiadens et al., 2012).