Congenital muscular dystrophy type 1A with residual merosin expression

Hyo Jeong Kim, Young Chul Choi, Hyung Jun Park, Young Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon Chul Kang

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 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.

Original languageEnglish
Pages (from-to)149-152
Number of pages4
JournalKorean Journal of Pediatrics
Volume57
Issue number3
DOIs
Publication statusPublished - 2014 Mar

Fingerprint

Muscular Dystrophies
Laminin
Muscle Hypotonia
Creatine Kinase
Intelligence
Skeletal Muscle
Magnetic Resonance Imaging
Staining and Labeling
Phenotype
Muscles
Mutation
Brain
Serum

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics

Cite this

Kim, Hyo Jeong ; Choi, Young Chul ; Park, Hyung Jun ; Lee, Young Mock ; Kim, Heung Dong ; Lee, Joon Soo ; Kang, Hoon Chul. / Congenital muscular dystrophy type 1A with residual merosin expression. In: Korean Journal of Pediatrics. 2014 ; Vol. 57, No. 3. pp. 149-152.
@article{46812ac087954abca98a4c4ecdbf9235,
title = "Congenital muscular dystrophy type 1A with residual merosin expression",
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 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.",
author = "Kim, {Hyo Jeong} and Choi, {Young Chul} and Park, {Hyung Jun} and Lee, {Young Mock} and Kim, {Heung Dong} and Lee, {Joon Soo} and Kang, {Hoon Chul}",
year = "2014",
month = "3",
doi = "10.3345/kjp.2014.57.3.149",
language = "English",
volume = "57",
pages = "149--152",
journal = "Korean Journal of Pediatrics",
issn = "1783-1061",
publisher = "Korean Pediatric Society",
number = "3",

}

Congenital muscular dystrophy type 1A with residual merosin expression. / Kim, Hyo Jeong; Choi, Young Chul; Park, Hyung Jun; Lee, Young Mock; Kim, Heung Dong; Lee, Joon Soo; Kang, Hoon Chul.

In: Korean Journal of Pediatrics, Vol. 57, No. 3, 03.2014, p. 149-152.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Congenital muscular dystrophy type 1A with residual merosin expression

AU - Kim, Hyo Jeong

AU - Choi, Young Chul

AU - Park, Hyung Jun

AU - Lee, Young Mock

AU - Kim, Heung Dong

AU - Lee, Joon Soo

AU - Kang, Hoon Chul

PY - 2014/3

Y1 - 2014/3

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84896454282&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84896454282&partnerID=8YFLogxK

U2 - 10.3345/kjp.2014.57.3.149

DO - 10.3345/kjp.2014.57.3.149

M3 - Article

AN - SCOPUS:84896454282

VL - 57

SP - 149

EP - 152

JO - Korean Journal of Pediatrics

JF - Korean Journal of Pediatrics

SN - 1783-1061

IS - 3

ER -