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
- 2008.1
- 수록면
- 123 - 130 (8page)
이용수
초록· 키워드
오류제보하기
Background and Purpose:At least 100 Ryanodine receptor type 1 (RYR1) mutations associated
with malignant hyperthermia (MH) and central core disease (CCD) have been identified,
but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family
have been reported only rarely.
Methods:Fifty-three members of a large MH family were investigated with clinical, histopathologic,
RYR1 mutation, and haplotyping studies. Blood creatine kinase (CK) and myoglobin
levels were also measured where possible.
Results:Sequencing of the entire RYR1 coding region identified a double RYR1 mutation
(R2435H and A4295V) in MH/CCD regions 2 and 3. Haplotyping analysis revealed that the
two missense heterozygous mutations (c.7304G>A and c.12891C>T) were always present on a
common haplotype allele, and were closely cosegregated with histological multiminicores and
elevated serum CK. All the subjects with the double mutation showed elevated serum CK and
myoglobin, and the obtained muscle biopsy samples showed multiminicore lesions, but only
two family members presented a late-onset, slowly progressive myopathy.
Conclusions:We found multiminicore myopathy with clinical and histological variability in
a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing
known mutant. These results suggest that multiminicore lesions are associated with the presence
of more than two mutations in the RYR1 gene.
목차
등록된 정보가 없습니다.
참고문헌 (25)
참고문헌 신청
Brandom BW / 2005 / XXIVth Annual Meeting of the European Malignant Hyperthermia Group / Anesthesiology 103 : 1324 ~
Brini M / 2005 / Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mut
Denborough M / 1998 / Malignant hyperthermia / Lancet 352 : 1131 ~ 1136
Higasa K / 2002 / Ordered catenation of sequence-tagged sites and multiplexed SNP genotyping by sequencing / Nucleic Acids Res 30 : E11 ~
Hopkins PM / 2000 / Malignant hyperthermia: advances in clinical management and diagnosis / Br J Anaesth 85 : 118 ~ 128
Brini M / 2005 / Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mut
Denborough M / 1998 / Malignant hyperthermia / Lancet 352 : 1131 ~ 1136
Higasa K / 2002 / Ordered catenation of sequence-tagged sites and multiplexed SNP genotyping by sequencing / Nucleic Acids Res 30 : E11 ~
Hopkins PM / 2000 / Malignant hyperthermia: advances in clinical management and diagnosis / Br J Anaesth 85 : 118 ~ 128
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Molecular Genetic Analysis of the Ryanodine Receptor Gene (RYR1) in Korean Malignant Hyperthermia Families
Annals of Laboratory Medicine
2010 .01
-
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region
Journal of Clinical Neurology
2015 .01
-
Role of $\alpha_{1C}$ Carboxyl Terminal in Cardiac $Ca^{2+}$ Signaling
대한약학회 학술대회
2003 .01
-
Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
The Journal of Endocrine Surgery
2014 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Characterization and Prognostic Value of Mutations in Exons 5 and 6 of the p53 Gene in Patients with Colorectal Cancers in Central Iran
Gut and Liver
2013 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson’s Disease
Journal of Clinical Neurology
2014 .01
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
Alternation and significance of calcium signalings through ryanodine receptor in neuronal cell death
대한약학회 학술대회
2003 .01
-
Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Annals of Laboratory Medicine
2015 .01
-
Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
한국인 비증후군성 감각신경성 난청 환자에서 미토콘드리아 유전자 점 돌연변이의 빈도
대한이비인후-두경부외과학회지
2004 .01
-
Mutation analyses in Korean patients with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
Journal of genetic medicine
1997 .01
-
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .01
-
Genetic Analysis of RYR1, PRNP, ESR Genes in the SNU Minaiture Pig
한국실험동물학회 학술발표대회 논문집
2009 .04
이 논문의 저자 정보
최근 본 자료
댓글(0)
0