지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 698 - 701 (4page)
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초록· 키워드
오류제보하기
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominantLGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. Inthe past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LGMD1Dpatients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness,as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findingsin one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patientsshowed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LGMD1D,including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Iyadurai SJ / 2016 / The limb-girdle muscular dystrophies and the dystrophinopathies / Continuum (Minneap Minn) 22:1954~1977
Harms MB / 2012 / Exome sequencing reveals DNAJB6 mutations in dominantlyinherited myopathy / Ann Neurol 71:407~416
Ruggieri A / 2015 / Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy / Acta Neuropathol Commun 3:44
Couthouis J / 2014 / Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy / Neuromuscul Disord 24:431~435
Sarparanta J / 2012 / Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy / Nat Genet 44:450~455
Harms MB / 2012 / Exome sequencing reveals DNAJB6 mutations in dominantlyinherited myopathy / Ann Neurol 71:407~416
Ruggieri A / 2015 / Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy / Acta Neuropathol Commun 3:44
Couthouis J / 2014 / Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy / Neuromuscul Disord 24:431~435
Sarparanta J / 2012 / Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy / Nat Genet 44:450~455
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