POMT2 mutation in a patient with 'MEB-like' phenotype

E. Mercuri, A. D'Amico, A. Tessa, A. Berardinelli, M. Pane, S. Messina, J. van Reeuwijk, E. Bertini, F. Muntoni, F. M. Santorelli

Research output: Contribution to journalArticle

Abstract

Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.

Original languageEnglish
Pages (from-to)446-448
Number of pages3
JournalNeuromuscular Disorders
Volume16
Issue number7
DOIs
Publication statusPublished - Jul 2006

Keywords

  • Brain
  • Congenital muscular dystrophy
  • POMT2

ASJC Scopus subject areas

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

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    Mercuri, E., D'Amico, A., Tessa, A., Berardinelli, A., Pane, M., Messina, S., van Reeuwijk, J., Bertini, E., Muntoni, F., & Santorelli, F. M. (2006). POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscular Disorders, 16(7), 446-448. https://doi.org/10.1016/j.nmd.2006.03.016