Jab1 in the pathogenesis of Merosin deficient congenital muscular dystrophy (MDC1A)


Merosin deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder due to mutations in the LAMA2 gene, which encodes for the laminin211 component of the Schwann cell and muscle basal lamina. Consequence in patients is a progressive-wasting muscular dystrophy, dysmyelinating neuropathy, and brain abnormalities. A number of mouse models reproducing clinical and pathological features of human MDC1A are available, and recent advances in molecular genetics identified molecules downstream to the laminin211-signalling pathway that may play a role in the pathogenesis of the disease.


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