A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy

Alessandro De Luca, Isabella Torrente, Massimo Mangino, Enrico Bertini, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)59-60
Number of pages2
JournalHuman Heredity
Volume49
Issue number1
DOIs
Publication statusPublished - Jan 1999

Keywords

  • Mutations
  • Myotubular myopathy
  • Myotubularin

ASJC Scopus subject areas

  • Genetics(clinical)

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