Related Experiment Video
Updated: Mar 24, 2026
Single Myofiber Isolation and Culture from a Murine Model of Emery-Dreifuss Muscular Dystrophy in Early Post-Natal Development
Published on: July 1, 2020
Merosin-negative congenital muscular dystrophy: Report of five cases
Faruk Incecik1, Ozlem M Herguner1, Serdar Ceylaner2
1Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Context:
Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2.
Aims:
The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A.
Setting And Designs:
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.
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