title: LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
abstract: BACKGROUND
  Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.
  
  
  METHODS
  In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.
  
  
  RESULTS
  Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.
  
  
  CONCLUSIONS
  This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
authors: Copenhagen Neuromuscular Center, section 3342, Righospitalet, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
authors: Nicoline
authors: N
authors: Løkken
authors: Department of Pediatrics, Rigshospitalet, University of Copenhagen, Denmark.
authors: Alfred Peter
authors: AP
authors: Born
authors: Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark.
authors: Morten
authors: M
authors: Duno
authors: Copenhagen Neuromuscular Center, section 3342, Righospitalet, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
authors: John
authors: J
authors: Vissing
mesh_terms: D000293:Adolescent; D000368:Aged; D001706:Biopsy; D002490:Central Nervous System / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D003718:Denmark; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007797:Laminin / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000235:genetics*
chemical_list: D007797:Laminin; C102645:laminin alpha 2
keywords: LAMA2, laminin-α2; brain MRI; congenital muscular dystrophy; limb-girdle muscular dystrophy; muscle biopsy