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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Lysosomal glycogen storage disease with normal acid maltase (Danon) is caused by primary lysosome- associated membrane protein-2 (LAMP-2) deficiency. Typically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distinct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.[1]


  1. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Yamamoto, A., Morisawa, Y., Verloes, A., Murakami, N., Hirano, M., Nonaka, I., Nishino, I. Neurology (2001) [Pubmed]
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