MeSH Review:
Glycogen Storage Disease Type IIb
Echaniz-Laguna,
Mohr,
Epailly,
Nishino,
Charron,
Richard,
Guiraud-Chaumeil,
Tranchant,
Musumeci,
Rodolico,
Nishino,
Di Guardo,
Migliorato,
Aguennouz,
Mazzeo,
Messina,
Vita,
Toscano,
Nishino,
Fu,
Tanji,
Yamada,
Shimojo,
Koori,
Mora,
Riggs,
Oh,
Koga,
Sue,
Yamamoto,
Murakami,
Shanske,
Byrne,
Bonilla,
Nonaka,
DiMauro,
Hirano,
- Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. Morisawa, Y., Fujieda, M., Murakami, N., Naruse, K., Okada, T., Morita, H., Sawada, K., Miyazaki, J., Kurashige, T., Nonaka, I. J. Neurol. Sci. (1998)
- Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J.E., Oh, S.J., Koga, Y., Sue, C.M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. Nature (2000)
- 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)
- Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Lobrinus, J.A., Schorderet, D.F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.Y. Neuromuscul. Disord. (2005)
- Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. Musumeci, O., Rodolico, C., Nishino, I., Di Guardo, G., Migliorato, A., Aguennouz, M., Mazzeo, A., Messina, C., Vita, G., Toscano, A. Neuromuscul. Disord. (2005)
- Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Echaniz-Laguna, A., Mohr, M., Epailly, E., Nishino, I., Charron, P., Richard, P., Guiraud-Chaumeil, C., Tranchant, C. Muscle Nerve (2006)
