- Central Core Disease: A Case Report
-
Kim JH, Park YS, Park SH, Chi JG
- KMID: 2275531
- Korean J Pathol.
- 2004 Feb;38(1):68-71.
Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle... -
- CITED
-
- Close
- SHARE
-
- Close
- Characteristic Muscle Involvement on Magnetic Resonance Imaging in Central Core Disease
-
Kim JY, Kim JG, Lee JY, Kang JH, Choi JC, Lee JS, Kang SY
- KMID: 2065765
- J Korean Neurol Assoc.
- 2011 Feb;29(1):31-33.
Central core disease (CCD) is a rare congenital myopathy characterized by central cores on muscle biopsy. We present three familial cases of CCD. The muscle pathology manifested as a predominance... -
- CITED
-
- Close
- SHARE
-
- Close
- Three cases of central core disease
-
Ko JT, Kim DW, Kim KJ, Ko TS, Hang YS, Lee CK
- KMID: 1684849
- J Korean Child Neurol Soc.
- 1993 Sep;1(1):186-192.
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region
-
Jung NY, Park YE, Shin JH, Lee CH, Jung DS, Kim DS
- KMID: 2179580
- J Clin Neurol.
- 2015 Jan;11(1):97-101.
- doi: 10.3988/jcn.2015.11.1.97
BACKGROUND: Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy
-
Jeong HN, Park HJ, Lee JH, Shin HY, Kim SH, Kim SM, Choi YC
- KMID: 2399600
- J Clin Neurol.
- 2018 Jan;14(1):58-65.
- doi: 10.3988/jcn.2018.14.1.58
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with... -
- CITED
-
- Close
- SHARE
-
- Close
- A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy
-
Jeong SK, Kim DC, Cho YG, Sunwo IN, Kim DS
- KMID: 2287676
- J Clin Neurol.
- 2008 Sep;4(3):123-130.
- doi: 10.3988/jcn.2008.4.3.123
BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying... -
- CITED
-
- Close
- SHARE
-
- Close
- Results of Subcutaneous Lengthening with Smooth CD Rod in Young Children with Scoliosis before Growth Spurt
-
Yeom JS, Ha JH, Chang BS, Suk SI, Choi IH, Chung CY, Lee CK
- KMID: 2105299
- J Korean Orthop Assoc.
- 1998 Apr;33(2):385-392.
For young children with scoliosis before growth spurt, suhcutaneous lengthening without fusion was designed by Harrington and modified by Moe and Luque. However, many problems including spontaneous fusion, rod breakage,... -
- CITED
-
- Close
- SHARE
-
- Close
