POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa, Marina Pedemonte, Sara Scapolan, Denise Cassandrini, Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli, Carlo Minetti, Claudio Bruno

Research output: Contribution to journalArticle

Abstract

Defects in glycosylation of α-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.

Original languageEnglish
Pages (from-to)1033-1037
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume363
Issue number4
DOIs
Publication statusPublished - Nov 30 2007

Keywords

  • Congenital muscular dystrophy
  • Dystroglycan
  • Glycosylation
  • POMT2

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Fingerprint Dive into the research topics of 'POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes'. Together they form a unique fingerprint.

  • Cite this