Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation

Congenital muscular alpha-dystroglycanopaties (MDDGAs) are rare congenital muscular dystrophies that are accompanied by a variety of brain and eye malformations. More than 19 gene mutations have been identified in MDDGA, and 11 mutations have been identified in the Walker–Warburg syndrome, but these...

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