A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

Eur J Paediatr Neurol. 2014 May;18(3):404-8. doi: 10.1016/j.ejpn.2013.10.005. Epub 2013 Oct 27.

Abstract

Background: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD).

Results: Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding.

Conclusions: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.

Keywords: Congenital muscular dystrophy; Limb girdle muscular dystrophy; POMT2; α-Dystroglycan glycosylation; α-Dystroglycanopathy.

Publication types

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

MeSH terms

  • Adolescent
  • Dystroglycans / genetics*
  • Dystroglycans / metabolism
  • Female
  • Glycosylation
  • Humans
  • Mannosyltransferases / genetics*
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies, Limb-Girdle / diagnosis
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / metabolism
  • Mutation / genetics*

Substances

  • Dystroglycans
  • Mannosyltransferases
  • protein O-mannosyltransferase