Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

Michelangelo Mancuso, Massimiliano Filosto, Seiichi Tsujino, Costanza Lamperti, Sara Shanske, Michéle Coquet, Claude Desnuelle, Salvatore DiMauro

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