- 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
- 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
