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

Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25.

Abstract

Defects in glycosylation of alpha-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 alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Biopsy
  • Child, Preschool
  • Female
  • Humans
  • Inflammation / complications
  • Inflammation / genetics
  • Inflammation / metabolism
  • Mannosyltransferases / genetics*
  • Mannosyltransferases / metabolism*
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / metabolism*
  • Muscular Dystrophies, Limb-Girdle / pathology*
  • Mutation / genetics

Substances

  • Mannosyltransferases
  • protein O-mannosyltransferase