- Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
-
Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW
- KMID: 2157828
- J Korean Med Sci.
- 2006 Aug;21(4):724-727.
- doi: 10.3346/jkms.2006.21.4.724
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
-
Park HJ, Jang H, Lee JH, Shin HY, Cho SR, Park KD, Bang D, Lee MG, Kim SM, Lee JH, Choi YC
- KMID: 2466367
- Yonsei Med J.
- 2016 Jan;57(1):173-179.
- doi: 10.3349/ymj.2016.57.1.173
PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted... -
- CITED
-
- Close
- SHARE
-
- Close
- Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy
-
Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS
- KMID: 1778355
- J Korean Med Sci.
- 2007 Jun;22(3):463-469.
- doi: 10.3346/jkms.2007.22.3.463
The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent... -
- CITED
-
- Close
- SHARE
-
- Close
