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Congenital muscular dystrophy type 1A with residual merosin expression

  • Kim, Hyo Jeong (Department of Pediatrics, Konyang University College of Medicine) ;
  • Choi, Young-Chul (Department of Neurology Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Park, Hyung Jun (Department of Neurology Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Young-Mock (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Kim, Heung Dong (Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Lee, Joon Soo (Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Kang, Hoon-Chul (Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine)
  • 투고 : 2013.01.15
  • 심사 : 2013.05.20
  • 발행 : 2014.03.15

초록

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 ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-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.

키워드

참고문헌

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피인용 문헌

  1. Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy vol.37, pp.6, 2014, https://doi.org/10.1080/15513815.2018.1520944