title: Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
abstract: BACKGROUND
  In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
  
  
  METHODS
  Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin α2 genetic and protein testing.
  
  
  RESULTS
  The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin α2 protein in the muscle biopsies ranged from trace to about 50% compared with controls.
  
  
  CONCLUSIONS
  This study represents the largest series of LGMD laminin α2-deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work-up of patients with undiagnosed LGMD.
authors.affiliation: Neuromuscular Center, Department of Neurosciences, University of Padova, Padova 35128, Italy.
authors.forename: Bruno F
authors.initials: BF
authors.lastname: Gavassini
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.forename: Else R
authors.initials: ER
authors.lastname: Danielsen
authors.forename: Carsten
authors.initials: C
authors.lastname: Thomsen
authors.forename: Kirsten
authors.initials: K
authors.lastname: Svenstrup
authors.forename: Luca
authors.initials: L
authors.lastname: Bello
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Maioli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Anna Filomena
authors.initials: AF
authors.lastname: Ticca
authors.forename: Marco
authors.initials: M
authors.lastname: Mura
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
authors.forename: Gianni
authors.initials: G
authors.lastname: Soraru
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: John
authors.initials: J
authors.lastname: Vissing
authors.forename: Elena
authors.initials: E
authors.lastname: Pegoraro
mesh_terms: D000293:Adolescent; D000368:Aged; D017398:Alternative Splicing; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D007797:Laminin / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D016254:Mutagenesis, Insertional; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D022821:RNA Splice Sites; D055815:Young Adult
chemical_list: D007797:Laminin; D022821:RNA Splice Sites; C102645:laminin alpha 2