دورية أكاديمية
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
| العنوان: | Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations |
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| المساهمون: | College of Medicine, Dept. of Neurology, 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, Lee, Jung Hwan, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Cho, Sung Rae, Choi, Young Chul |
| بيانات النشر: | Yonsei University Korea (South) |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 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, Limb-Girdle/genetics, Limb-Girdle/pathology* Mutation* Republic of Korea, CAPN3, Limb girdle muscular dystrophy 2A, calpainopathy, lobulated fiber |
| الوصف: | 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. ; open |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 173~179 |
| اللغة: | English |
| تدمد: | 0513-5796 1976-2437 |
| العلاقة: | YONSEI MEDICAL JOURNAL; J02813; OAK-2016-00019; https://ir.ymlib.yonsei.ac.kr/handle/22282913/145507Test; T201600006; YONSEI MEDICAL JOURNAL, Vol.57(1) : 173-179, 2016 |
| DOI: | 10.3349/ymj.2016.57.1.173 |
| الإتاحة: | https://doi.org/10.3349/ymj.2016.57.1.173Test https://ir.ymlib.yonsei.ac.kr/handle/22282913/145507Test |
| رقم الانضمام: | edsbas.A2642C92 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 05135796 19762437 |
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| DOI: | 10.3349/ymj.2016.57.1.173 |