지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 173 - 179 (7page)
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초록· 키워드
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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 featuresincluding 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 patientswith calpainopathy.
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등록된 정보가 없습니다.
참고문헌 (25)
참고문헌 신청
Adzhubei I / 2013 / Predicting functional effect of human missense mutations using PolyPhen-2 / Curr Protoc Hum Genet 7 : Unit7.20 ~
Awater C / 2012 / Pregnancy course and outcome in women with hereditary neuromuscular disorders:comparison of obstetric risks in 178 patients / Eur J Obstet Gynecol Reprod B
Chae J / 2001 / Calpain 3 gene mutations: genetic and clinico-pathologic find-ings in limb-girdle muscular dystrophy / Neuromuscul Disord 11 : 547 ~ 555
DePristo MA / 2011 / A framework for variation discovery and genotyping using next-generation DNA sequencing data / Nat Genet 43 : 491 ~ 498
Fanin M / 2001 / Calpain-3 and dysferlin protein screening in patients with limbgirdle dystrophy and myopathy / Neurology 56 : 660 ~ 665
Awater C / 2012 / Pregnancy course and outcome in women with hereditary neuromuscular disorders:comparison of obstetric risks in 178 patients / Eur J Obstet Gynecol Reprod B
Chae J / 2001 / Calpain 3 gene mutations: genetic and clinico-pathologic find-ings in limb-girdle muscular dystrophy / Neuromuscul Disord 11 : 547 ~ 555
DePristo MA / 2011 / A framework for variation discovery and genotyping using next-generation DNA sequencing data / Nat Genet 43 : 491 ~ 498
Fanin M / 2001 / Calpain-3 and dysferlin protein screening in patients with limbgirdle dystrophy and myopathy / Neurology 56 : 660 ~ 665
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