title: Merosin-negative congenital muscular dystrophy: Report of five cases.
abstract: BACKGROUND
  Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2.
  
  
  OBJECTIVE
  The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A.
  Five children with MDC1A were retrospectively analyzed.
  
  
  RESULTS
  Three (60%) were boys, and 2 (40%) were girls. Parental consanguinity was found in all the families. In all the patients, hypotonia, weakness, delayed motor milestones, markedly elevated creatine phosphokinase (CPK) concentration, and brain white matter abnormalities on magnetic resonance imaging were detected. Mutation analysis was performed in all the patients, and 3 different mutations were detected. However, a mutation in patient 1 and 2 has not been previously described in the literature.
  
  
  CONCLUSIONS
  When a patient presents with severe congenital hypotonia, muscle weakness, high serum CPK levels, and white matter abnormalities, should be suspected as MDC1A.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
authors.forename: Faruk
authors.initials: F
authors.lastname: Incecik
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
authors.forename: Ozlem M
authors.initials: OM
authors.lastname: Herguner
authors.affiliation: Intergen Genetics Centre, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
authors.forename: Sakir
authors.initials: S
authors.lastname: Altunbasak
keywords: Clinical findings; congenital muscular dystrophy type 1A; genetic mutations