Clinical and pathological heterogeneity of Korean patients with CAPN3 mutations
- 주제(키워드) Calpainopathy , CAPN3 , Genetic testing , Limb girdle muscular dystrophy 2A , Lobulated fiber
- 등재 SCIE, KCI등재, SCOPUS
- 발행기관 Yonsei University College of Medicine
- 발행년도 2016
- 총서유형 Journal
- URI http://www.dcollection.net/handler/ewha/000000122661
- 본문언어 영어
- Published As http://dx.doi.org/10.3349/ymj.2016.57.1.173
- 저작권 이화여자대학교 논문은 저작권에 의해 보호받습니다.
초록/요약
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 sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed. Results: Nine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c.2384C>T) were identified. The median age at symptom onset was 22 (interquartile range: 15–28). Common clinical findings were joint contracture in nine patients, winged scapula in four, and lordosis in one. However, we also found highly variable clinical features including early onset joint contractures, asymptomatic hyperCKemia, and heterogeneous clinical severity in three members of the same family. Four of nine muscle specimens revealed lobulated fibers, but three showed normal skeletal muscle histology. Conclusion: We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy. © Yonsei University College of Medicine 2016.
more