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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
- 2015.1
- 수록면
- 97 - 101 (5page)
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초록· 키워드
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Background Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) havebeen identified in most CCD patients.
Case Report Two unrelated patients presented with slowly progressive or nonprogressiveproximal muscle weakness since childhood. Their family history revealed some members withthe same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A).
Conclusions We report herein two families with CCD in whom missense mutations at the Cterminal of RYR1 were identified. Although it has been accepted that such mutations are usuallyassociated with a severe clinical phenotype and clearly demarcated central cores, our patientsexhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities,and atypical cores in their muscle biopsy specimens.
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참고문헌 (18)
참고문헌 신청
Balshaw D / 1999 / Luminal loop of the ryanodine receptor: a pore-forming segment? / Proc Natl Acad Sci U S A 96 : 3345 ~ 3347
Chang X / 2013 / Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease / J Child Neurol 28 : 384 ~ 388
Davis MR / 2003 / Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene / Neuromuscul Disord 13 :
Dirksen RT / 2002 / Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? / Trends Cardiovasc Med 12 : 189 ~ 197
Jungbluth H / 2007 / Central core disease / Orphanet J Rare Dis 2 : 25 ~
Chang X / 2013 / Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease / J Child Neurol 28 : 384 ~ 388
Davis MR / 2003 / Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene / Neuromuscul Disord 13 :
Dirksen RT / 2002 / Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? / Trends Cardiovasc Med 12 : 189 ~ 197
Jungbluth H / 2007 / Central core disease / Orphanet J Rare Dis 2 : 25 ~
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