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Distal myopathy with ADSSL1 mutations in Korean patients

DC Field Value Language
dc.contributor.author김성준-
dc.contributor.author김세훈-
dc.contributor.author김승민-
dc.contributor.author신하영-
dc.contributor.author이정환-
dc.contributor.author최영철-
dc.contributor.author홍지만-
dc.date.accessioned2017-11-01T09:00:38Z-
dc.date.available2017-11-01T09:00:38Z-
dc.date.issued2017-
dc.identifier.issn0960-8966-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/153907-
dc.description.abstractTo understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and c.1220T>C mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Vastus lateralis muscle biopsies revealed non-specific chronic myopathic features with a few nemaline rods. Whole body muscle MR imaging showed more fatty replacement in the distal limb and tongue muscles than in the proximal limb and axial muscles. This study showed that ADSSL1 myopathy was not rare among distal myopathy patients of Korean origin, and expanded the clinical and genetic spectrum. Therefore, we suggest that the screening test of ADSSL1 gene should be considered for the diagnosis of distal myopathy.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherPergamon Press-
dc.relation.isPartOfNEUROMUSCULAR DISORDERS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdenylosuccinate Synthase/genetics*-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHDistal Myopathies/diagnostic imaging-
dc.subject.MESHDistal Myopathies/genetics*-
dc.subject.MESHDistal Myopathies/pathology-
dc.subject.MESHDistal Myopathies/physiopathology*-
dc.subject.MESHFemale-
dc.subject.MESHFollow-Up Studies-
dc.subject.MESHGenetic Association Studies-
dc.subject.MESHHumans-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMale-
dc.subject.MESHMuscle, Skeletal/diagnostic imaging-
dc.subject.MESHMuscle, Skeletal/pathology-
dc.subject.MESHMutation*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHRetrospective Studies-
dc.subject.MESHWhole Body Imaging-
dc.subject.MESHYoung Adult-
dc.titleDistal myopathy with ADSSL1 mutations in Korean patients-
dc.typeArticle-
dc.publisher.locationEngland-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Radiology-
dc.contributor.googleauthorHyung Jun Park-
dc.contributor.googleauthorHa Young Shin-
dc.contributor.googleauthorSungjun Kim-
dc.contributor.googleauthorSe Hoon Kim-
dc.contributor.googleauthorYunbeom Lee-
dc.contributor.googleauthorJung Hwan Lee-
dc.contributor.googleauthorJi-Man Hong-
dc.contributor.googleauthorSeung Min Kim-
dc.contributor.googleauthorKee Duk Park-
dc.contributor.googleauthorByung-Ok Choi-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.1016/j.nmd.2017.02.004-
dc.contributor.localIdA00610-
dc.contributor.localIdA00653-
dc.contributor.localIdA02170-
dc.contributor.localIdA03133-
dc.contributor.localIdA04116-
dc.contributor.localIdA04439-
dc.contributor.localIdA00585-
dc.relation.journalcodeJ02344-
dc.identifier.eissn1873-2364-
dc.identifier.pmid28268051-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0960896616310720-
dc.subject.keywordADSSL1-
dc.subject.keywordDiagnosis-
dc.subject.keywordDistal myopathy-
dc.subject.keywordMuscle MRI-
dc.subject.keywordPhenotype–genotype correlation-
dc.contributor.alternativeNameKim, Sung Jun-
dc.contributor.alternativeNameKim, Se Hoon-
dc.contributor.alternativeNameKim, Seung Min-
dc.contributor.alternativeNameShin, Ha Young-
dc.contributor.alternativeNameLee, Jung Hwan-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameHong, Ji Man-
dc.contributor.affiliatedAuthorKim, Se Hoon-
dc.contributor.affiliatedAuthorKim, Seung Min-
dc.contributor.affiliatedAuthorShin, Ha Young-
dc.contributor.affiliatedAuthorLee, Jung Hwan-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorHong, Ji Man-
dc.contributor.affiliatedAuthorKim, Sung Jun-
dc.citation.titleNeuromuscular Disorders-
dc.citation.volume27-
dc.citation.startPage465-
dc.citation.endPage472-
dc.identifier.bibliographicCitationNEUROMUSCULAR DISORDERS, Vol.27 : 465-472, 2017-
dc.date.modified2017-11-01-
dc.identifier.rimsid43667-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers

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