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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 
 Yonsei Medical Journal, Vol.57(1) : 173-179, 2016 
Journal Title
 Yonsei Medical Journal 
Issue Date
Adolescent ; Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group/genetics* ; Calpain/genetics* ; Female ; Genetic Testing ; Humans ; Male ; Molecular Sequence Data ; Muscle Proteins/genetics* ; Muscle, Skeletal/pathology ; Muscular Dystrophies, Limb-Girdle/ethnology ; Muscular Dystrophies, Limb-Girdle/genetics* ; Muscular Dystrophies, Limb-Girdle/pathology* Mutation* Republic of Korea
CAPN3 ; Limb girdle muscular dystrophy 2A ; calpainopathy ; genetic testing ; lobulated fiber
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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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실)
Yonsei Authors
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이정환(Lee, Jung Hwan)
조성래(Cho, Sung-Rae) ORCID logo https://orcid.org/0000-0003-1429-2684
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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