LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies

Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.


Introduction: 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.

Keywords: LAMA2, laminin-α2; brain MRI; congenital muscular dystrophy; limb-girdle muscular dystrophy; muscle biopsy.

MeSH terms

  • Adolescent
  • Aged
  • Biopsy
  • Central Nervous System / pathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cross-Sectional Studies
  • Denmark
  • Female
  • Genetic Testing
  • Humans
  • Laminin / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies, Limb-Girdle / diagnosis
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / genetics*


  • Laminin
  • laminin alpha 2