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

Olimpia Musumeci, Carmelo Rodolico, Ichizo Nishino, Giuseppe Di Guardo, Alba Migliorato, Mohammed Aguennouz, Anna Mazzeo, Corrado Messina, Giuseppe Vita, Antonio Toscano

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)409-411
Number of pages3
JournalNeuromuscular Disorders
Issue number6
Publication statusPublished - Jun 2005


  • Cardiomyopathy
  • HyperCKemia
  • LAMP-2 deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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