Korean J Pediatr.  2014 Mar;57(3):149-152. 10.3345/kjp.2014.57.3.149.

Congenital muscular dystrophy type 1A with residual merosin expression

• Kim HJ
• Choi YC
• Park HJ
• Lee YM
• Kim HD
• Lee JS
• Kang HC

• KMID: 1702654
• DOI: http://doi.org/10.3345/kjp.2014.57.3.149

Abstract

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin alpha2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin alpha2)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

Keyword

Merosin-deficient congenital muscular dystrophy; Laminin alpha2; Immunohistochemistry

MeSH Terms

Brain
Creatine Kinase
Female
Humans
Immunohistochemistry
Intelligence
Laminin*
Magnetic Resonance Imaging
Muscle Hypotonia
Muscle, Skeletal
Muscular Dystrophies*
Phenotype
Creatine Kinase
Laminin