Congenital muscular dystrophy type 1A with residual merosin expression

• Published in: Clinical and experimental pediatrics Vol. 57; no. 3; pp. 149 - 152
• Main Authors: Kim, Hyo Jeong, Choi, Young-Chul, Park, Hyung Jun, Lee, Young-Mock, Kim, Heung Dong, Lee, Joon Soo, Kang, Hoon-Chul
• Format: Journal Article
• Language: English
• Published: Korea (South) Clinical and Experimental Pediatics / Korean Pediatric Society 01.03.2014; The Korean Pediatric Society; Korean Pediatric Society; 대한소아청소년과학회
• Subjects: Age; Biopsy; Case Report; Conflicts of interest; Congenital diseases; Genotype & phenotype; Immunohistochemistry; Kinases; Laminin alpha2; Magnetic resonance imaging; Merosin-deficient congenital muscular dystrophy; Muscular dystrophy; Musculoskeletal system; Mutation; Patients; 소아과학; Immunohistochemistry; Merosin-deficient congenital muscular dystrophy; Laminin alpha2
• ISSN: 1738-1061; 2092-7258; 2713-4148
• DOI: 10.3345/kjp.2014.57.3.149

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 α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-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.