TY - JOUR
T1 - Clinical and pathological heterogeneity of Korean patients with CAPN3 mutations
AU - Park, Hyung Jun
AU - Jang, Hoon
AU - Lee, Jung Hwan
AU - Shin, Ha Young
AU - Cho, Sung Rae
AU - Park, Kee Duk
AU - Bang, Duhee
AU - Lee, Min Goo
AU - Kim, Seung Min
AU - Lee, Ji Hyun
AU - Choi, Young Chul
N1 - Publisher Copyright:
© Yonsei University College of Medicine 2016.
PY - 2016/1
Y1 - 2016/1
N2 - 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.
AB - 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.
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U2 - 10.3349/ymj.2016.57.1.173
DO - 10.3349/ymj.2016.57.1.173
M3 - Article
C2 - 26632398
AN - SCOPUS:84949908202
SN - 0513-5796
VL - 57
SP - 173
EP - 179
JO - Yonsei Medical Journal
JF - Yonsei Medical Journal
IS - 1
ER -