Search

  • HOME
  • Search
Case Report
X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(3):139-142.   Published online March 18, 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

Original Article
CNS Complications in Childhood Cancer
Yoo Jin Jeong, Yeon Kyong Seo, Seung Ah Hong, Heung Sik Kim, Jun Sik Kim, Hee Jung Lee
Clin Exp Pediatr. 2003;46(11):1112-1117.   Published online November 15, 2003
Purpose : Recent advances in the methods of treating cancer in young patients have led to both an increased frequency of CNS complications as well as prolonged life expectancy. We intend to analyze the clinical aspects and laboratory findings of patients with CNS complications during and after treatment. Methods : We reviewed the medical records of 174 childhood cancer...
Predictors of neurologic handicap in hypoxic ischemic encephalopathy.
Seung Tae Kim, Gui Ran Kim, Byung Hak Lim, Sang Geel Lee, Im Ju Kang
Clin Exp Pediatr. 1991;34(4):473-479.   Published online April 30, 1991
Retrospective follow up studies were done in 52 term infants who were treated at the nursery in Taegu Fatima Hospital, for clinical evidence of Hypoxic ischemic enecphalopathy (stage II). All children were followed for a minimum of 6 months. Factors that significantly correlated with prognosis included 5-minute Apgar scores, the age at the onset of the seizures, the EEG and the initial brain CT. (1) Of...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)


Close layer
prev next