title: POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
abstract: BACKGROUND
  Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.
  
  
  OBJECTIVE
  To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations.
  
  
  METHODS
  Case reports.
  
  
  METHODS
  One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity.
  
  
  RESULTS
  Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel.
  
  
  CONCLUSIONS
  This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.
authors.affiliation: Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. roberta@biancheri.com
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Antonio
authors.initials: A
authors.lastname: Falace
authors.forename: Marina
authors.initials: M
authors.lastname: Pedemonte
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Sara
authors.initials: S
authors.lastname: Scapolan
authors.forename: Laura
authors.initials: L
authors.lastname: Bergamino
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Paolo
authors.initials: P
authors.lastname: Broda
authors.forename: Mario
authors.initials: M
authors.lastname: Manfredi
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D017124:Conserved Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D049030:Dystroglycans / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D017127:Glycation End Products, Advanced / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D012160:Retina / Q000378:metabolism / Q000503:physiopathology; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome
chemical_list: D017127:Glycation End Products, Advanced; D049030:Dystroglycans; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase