View : 18 Download: 0

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

Title
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
Authors
Park, Hyung JunJang, HoonLee, Jung HwanShin, Ha YoungCho, Sung-RaePark, Kee DukBang, DuheeLee, Min GooKim, Seung MinLee, Ji HyunChoi, Young-Chul
Ewha Authors
박기덕박형준
SCOPUS Author ID
박기덕scopus; 박형준scopusscopus
Issue Date
2016
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
0513-5796JCR Link1976-2437JCR Link
Citation
vol. 57, no. 1, pp. 173 - 179
Keywords
Limb girdle muscular dystrophy 2AcalpainopathyCAPN3lobulated fibergenetic testing
Publisher
YONSEI UNIV COLL MEDICINE
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
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.
DOI
10.3349/ymj.2016.57.1.173
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE