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

Research output: Contribution to journalArticlepeer-review

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

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