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Musumeci, O. et al.

Musumeci, Rodolico, Nishino, Di Guardo, Migliorato, Aguennouz, Mazzeo, Messina, Vita, Toscano,

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Primary lysosome-associated membrane protein-2 (LAMP-2) deficiency is an X-linked disease, characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation, previously known as Danon disease. Mutations of lamp-2 gene have been reported so far in about 20 patients, one of whom was Italian. We describe a new Italian case with persistent hyperCKemia, exercise intolerance and hypertrophic cardiomyopathy but with no muscle weakness or mental impairment. Muscle biopsy revealed a vacuolar myopathy with mild glycogen storage, and immunohistochemical studies detected LAMP-2 deficiency. A new nucleotide substitution (T961C) on exon 8 of lamp-2 gene was identified as responsible for the protein deficiency. This is the first missense mutation so far described. LAMP-2 deficiency should be considered as a cause of recurrent hyperCKemia and hypertrophic cardiomyopathy.[1]

References

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) [Pubmed]

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