title: A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.
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.
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Saredi
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Gibertini
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ardissone
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Fusco
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Zanotti
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Blasevich
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta, Milano, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Moroni
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy. Electronic address: mmora@istituto-besta.it.
authors.forename: M
authors.initials: M
authors.lastname: Mora
mesh_terms: D000293:Adolescent; D049030:Dystroglycans / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006031:Glycosylation; D006801:Humans; D008364:Mannosyltransferases / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*
chemical_list: D049030:Dystroglycans; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase
keywords: Congenital muscular dystrophy; Limb girdle muscular dystrophy; POMT2; α-Dystroglycan glycosylation; α-Dystroglycanopathy