Abstract

Mutations in nuclear envelope (NE) proteins, emerin, lamin A/C, nesprin-1/2 and SUN1/SUN2 have been identified in the causation of Emery-Dreifuss muscular dystrophy (EDMD) and some extremely rare forms of congenital muscular dystrophy (CMD). These NE proteins are all components of the linker of nucleoskeleton and cytoskeleton (LINC) complex, a structure that spans the NE and connects the nuclear lamina (NL) to the cytoskeleton. Some progress has been made to understand the molecular pathways acting downstream of the defective genes, however the roles of these proteins during myoblast development and differentiation are still not fully understood.

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