Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

Hasan O. Akman, Guido Davidzon, Kurenai Tanji, Emma J. MacDermott, Louann Larsen, Mercy M. Davidson, Ronald G. Haller, Lidia S. Szczepaniak, Thomas J A Lehman, Michio Hirano, Salvatore DiMauro

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