title: Limb-girdle muscular dystrophy type 2A in Brazilian children.
abstract: Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
  
  
  OBJECTIVE
  To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.
  
  
  METHODS
  We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.
  
  
  RESULTS
  All patients were female (three to 12 years). The mean of age of disease onset was 9 years. All of them showed progressive weakness with predominance in lower limbs. Other findings were scapular winging, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister that was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients.
  
  
  CONCLUSIONS
  In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Marco Antônio Veloso de
authors.initials: MA
authors.lastname: Albuquerque
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Osório
authors.initials: O
authors.lastname: Abath Neto
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Francisco Marcos Alencar da
authors.initials: FM
authors.lastname: Silva
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Edmar
authors.initials: E
authors.lastname: Zanoteli
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Umbertina Conti
authors.initials: UC
authors.lastname: Reed
mesh_terms: D001938:Brazil; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012189:Retrospective Studies