• Search
  • Advanced Search

Search

  • HOME
  • Search
Original Article
Neurology
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee
Clin Exp Pediatr. 2019;62(2):55-61.   Published online September 23, 2018

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG...
Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy
Tae Ho Lee, Lucy Youngmin Eun, Jae Young Choi, Hye Eun Kwon, Young-Mock Lee, Heung Dong Kim, Seong-Woong Kang
Clin Exp Pediatr. 2014;57(5):232-239.   Published online May 31, 2014
Purpose

Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD.

Methods

We retrospectively evaluated the echocardiographic data of 90 children with...

Case Report
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
Clin Exp Pediatr. 2014;57(3):149-152.   Published online March 31, 2014

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...

Original Article
Epilepsy in Korean patients with Angelman syndrome
Sung-Hee Park, Jung-Rim Yoon, Heung Dong Kim, Joon Soo Lee, Young-Mock Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2012;55(5):171-176.   Published online May 21, 2012
Purpose

The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea.

Methods

We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric...

Visually evoked potential in children with mitochondrial respiratory chain defects
Ji Eun Song, He Min Kim, Sang-Chul Lee, Yoon-Gghil Park, Suk-Ho Byeon, Young-Mock Lee, Joon-Soo Lee, Heung-Dong Kim
Clin Exp Pediatr. 2009;52(4):471-475.   Published online April 15, 2009
Purpose : Mitochondrial disorders are a clinical entity characterized by diverse symptoms and signs of involvement of various systems. Furthermore, the disorders are known to show ophthalmologic manifestations as well as neurological findings. Visually evoked potential is a sensitive measure to check the integrity of the visual pathway. In this study, we have investigated the value of visually evoked potential...
Review Article
Epilepsy in various metabolic disorders
Young-Mock Lee
Clin Exp Pediatr. 2008;51(12):1290-1294.   Published online December 15, 2008
Seizures are a frequent symptom in metabolic disorders, although metabolic disorders are rarely found to be the cause of epilepsy. A precise diagnosis might not only influence treatment, but it might also call for counseling of the family, even if there are no direct therapeutic consequences. We review the main characteristics of epilepsy in metabolic disorders with regard to energy...
Original Article
The efficacy of ketogenic diet in childhood intractable epilepsy with malformation of cortical development
Young-Mock Lee, Du Cheol Kang, Da Eun Chung, Hoon Chul Kang, Heung Dong Kim
Clin Exp Pediatr. 2006;49(2):192-197.   Published online February 15, 2006
Purpose : Malformation of cortical development(MCD) constitutes an important etiology of intractable epilepsy and is considered an indication for surgical treatments, though their efficacy is limited and variable depending on MCD's location or distribution. Ketogenic diets are widely known to be effective, but as little study has been made concerning their efficacy on epilepsy with MCD, we evaluated the efficacy...
Comparison of Serum Proteome Maps of Children with Kawasaki Disease
Seoung Yon Baek, Young-Mock Lee, Kwang Hoon Lee, Dong Soo Kim
Clin Exp Pediatr. 2004;47(1):81-89.   Published online January 15, 2004
Purpose : Kawasaki disease is a systemic vasculitis observed in children under five years of age and the leading cause of pediatric acquired heart disease, but its pathophysiology is still not completely understood. With proteomics, the study of quality and quantity of proteins, having been developed dramatically, we tried to find a way to evaluate the etiology and pathogenesis of...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)