Clinical and pathological heterogeneity of Korean patients with CAPN3 mutations

Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young Chul Choi

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish
Pages (from-to)173-179
Number of pages7
JournalYonsei Medical Journal
Issue number1
StatePublished - Jan 2016

Bibliographical note

Publisher Copyright:
© Yonsei University College of Medicine 2016.


  • CAPN3
  • Calpainopathy
  • Genetic testing
  • Limb girdle muscular dystrophy 2A
  • Lobulated fiber


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