Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)

Elisabetta Flex, Alessandro De Luca, Maria Rosaria D'Apice, Anna Buccino, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene. This gene encodes for a lipid phosphatase belonging to a large gene family involved in the regulation of phosphatidylinositide-3-kinase (PI 3-kinase) pathway and membrane trafficking. To date, more than 130 different mutations, distributed in all exons, have been identified in a large number of families. The majority of MTM1 mutations are private and rare, generating high allelic diversity, with a restricted number of recurrent mutations. We set up and formatted a denaturing high performance liquid chromatography (DHPLC) method to allow high throughput, greater accuracy and high resolution in detecting myotubularin mutations. The entire coding sequence of the gene was screened in 10 XLMTM patients using this technique. We identified seven mutated alleles [R37X, (137-11) A, (592-593) insA, T197I, R253X, G378R, G402R] previously characterised by SSCP and DNA sequencing, plus two novel mutations which are reported here [P199S, (1644 + 2) insG]. In addition we detected a common polymorphism within intron 11 (1314 + 3A/G). Our results suggest that denaturing high-performance liquid chromatography provides an accurate method for the rapid identification of MTM1 mutations.

Original languageEnglish
Pages (from-to)501-505
Number of pages5
JournalNeuromuscular Disorders
Issue number5
Publication statusPublished - 2002


  • Denaturing high-performance liquid chromatography
  • MTM1 gene
  • Mutation detection
  • Myotubularin
  • X-linked myotubular myopathy

ASJC Scopus subject areas

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


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