Abstract
Congenital muscular dystrophies (CMD) is a heterogenous group of autosomal recessive condititons with or without brain involvement. They are mainly classified as 1. deficiency of proteins at the extracellular matrix (laminin a2, collagen VI), nuclear envelope (lamin A/C), nesprin), endoplasmic reticulum (selenon); 2. Abnormal glycosylation of proteins (alpha-dystroglycan, Dol-P-Man); 3. Others such as mitochondrial CMD. There has been increasing efforts to treat laminin a-2 deficiency with mini agrin gene delivery or upregulating laminin 111.
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