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Cited 3 times in

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

DC FieldValueLanguage
dc.contributor.author이정환-
dc.contributor.author김승민-
dc.contributor.author신하영-
dc.contributor.author이민구-
dc.contributor.author조성래-
dc.contributor.author최영철-
dc.date.accessioned2017-01-19T12:57:17Z-
dc.date.available2017-01-19T12:57:17Z-
dc.date.issued2016-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/145507-
dc.description.abstractPURPOSE: 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.-
dc.description.statementOfResponsibilityopen-
dc.format.extent173~179-
dc.languageEnglish-
dc.publisherYonsei University-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHAsian Continental Ancestry Group/genetics*-
dc.subject.MESHCalpain/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Testing-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMuscle Proteins/genetics*-
dc.subject.MESHMuscle, Skeletal/pathology-
dc.subject.MESHMuscular Dystrophies, Limb-Girdle/ethnology-
dc.subject.MESHMuscular Dystrophies, Limb-Girdle/genetics*-
dc.subject.MESHMuscular Dystrophies, Limb-Girdle/pathology* Mutation* Republic of Korea-
dc.titleClinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations-
dc.typeArticle-
dc.publisher.locationKorea (South)-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Neurology-
dc.contributor.googleauthorHyung Jun Park-
dc.contributor.googleauthorHoon Jang-
dc.contributor.googleauthorJung Hwan Lee-
dc.contributor.googleauthorHa Young Shin-
dc.contributor.googleauthorSung-Rae Cho-
dc.contributor.googleauthorKee Duk Park-
dc.contributor.googleauthorDuhee Bang-
dc.contributor.googleauthorMin Goo Lee-
dc.contributor.googleauthorSeung Min Kim-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.3349/ymj.2016.57.1.173-
dc.contributor.localIdA03133-
dc.contributor.localIdA00653-
dc.contributor.localIdA02170-
dc.contributor.localIdA02781-
dc.contributor.localIdA03831-
dc.contributor.localIdA04116-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid26632398-
dc.subject.keywordCAPN3-
dc.subject.keywordLimb girdle muscular dystrophy 2A-
dc.subject.keywordcalpainopathy-
dc.subject.keywordgenetic testing-
dc.subject.keywordlobulated fiber-
dc.contributor.alternativeNameLee, Jung Hwan-
dc.contributor.alternativeNameKim, Seung Min-
dc.contributor.alternativeNameShin, Ha Young-
dc.contributor.alternativeNameLee, Min Goo-
dc.contributor.alternativeNameCho, Sung Rae-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.affiliatedAuthorLee, Jung Hwan-
dc.contributor.affiliatedAuthorKim, Seung Min-
dc.contributor.affiliatedAuthorShin, Ha Young-
dc.contributor.affiliatedAuthorLee, Min Goo-
dc.contributor.affiliatedAuthorCho, Sung Rae-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.citation.volume57-
dc.citation.number1-
dc.citation.startPage173-
dc.citation.endPage179-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.57(1) : 173-179, 2016-
dc.date.modified2017-01-16-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers

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