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Original Article
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...

Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect
Jung Hyun Chae, Jung Hun Lee, Kyo Ryung Kim, Suk Ho Byeon, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim
Clin Exp Pediatr. 2010;53(12):994-999.   Published online December 31, 2010
Purpose

Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD).

Methods

Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE...

Electrocardiography as an early cardiac screening test in children with mitochondrial disease
Ran Baik, Jung Hyun Chae, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim
Clin Exp Pediatr. 2010;53(5):644-647.   Published online May 31, 2010
Purpose

To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease.

Methods

We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG) on all patients.

Results

ECG abnormalities were observed in 30 patients (52.6%)....

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...
MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings
Young Ghil Rah, Soo Ahn Chae, In Suk Lim, Dong Keun Lee, Byoung Hun Yoo, Tae Sung Ko, Han Wook Yoo
Clin Exp Pediatr. 1999;42(3):412-418.   Published online March 15, 1999
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution...
Case Report
A Pediatric Case of MELAS Syndrome Associated with Insulin-dependent Diabetes Mellitus
Kyung Ran Park, Hye Won Park, Tae Sung Ko, Hae Il Cheong, Sei Won Yang, Young Seung Hwang, In Won Kim, Je Geun Chi
Clin Exp Pediatr. 1996;39(10):1461-1465.   Published online October 15, 1996
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and sroke like episodes) is a major subgroup of heterogeneous mitochondrial encephalopathy. Recent advances in molecular genetics revealed specific mutations in the mitochondrial DNA causing MELAS. We described clinical and molecular genetic findings of a 13-year-old boy with MELAS syndrome associated IDDM(insulin dependent diabetes mellitus). For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the A→G...
A Case of MELAS Syndrome
Clin Exp Pediatr. 1993;36(3):394-402.   Published online March 15, 1993
MELAS syndrome is a rae but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopaphy, lactic acidosis, and stroke-like episodes. We experienced a case of MELAS syndrome in an 8 year-old boy who showed headache, pain of the eyeball, vomiting, stroke-like episodes such as visual disturbance and dysarthria, myoclonic seizure, confusion,...
Original Article
A Case of MELAS Syndrome.
Ki Joong Kim, Yong Seung Hwang, Young In Choi, Sung Hye Park, Je Geun Chi
Clin Exp Pediatr. 1990;33(11):1586-1592.   Published online November 30, 1990
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) syndrome is a rare but clinicopathologically distinctive mitochondrial disorder. We experienced a case of MELAS syndrnmp in A 11 year-old girl who showed repeated attacks of stroke-like episodes, vomitng, cortical blindness, hearing deficit and alternating hemiplegia. Serum lactic acid level was elevated (6.4 mmol/Z). The diagnosis was confirmed by muscle biopsy which revealed dispersed ragged-red fibers.