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
- 153 - 157 (5page)
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초록· 키워드
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Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Barth PG / 1983 / An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes / J Neurol Sci 62:327~355
Aprikyan AA / 2013 / Advances in the understanding of Barth syndrome / Br J Haematol 161:330~338
Human TAZ gene variants database
Kelley RI / 1991 / X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria / J Pediatr 119:738~747
Bolhuis PA / 1991 / Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 / Am J Hum Genet 48:481~485
Aprikyan AA / 2013 / Advances in the understanding of Barth syndrome / Br J Haematol 161:330~338
Human TAZ gene variants database
Kelley RI / 1991 / X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria / J Pediatr 119:738~747
Bolhuis PA / 1991 / Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 / Am J Hum Genet 48:481~485
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