[1]庞 咪 笪宇威.脂质沉积性肌病的分子生物学研究进展[J].卒中与神经疾病杂志,2015,22(05):311-313.[doi:10.3969/j.issn.1007-0478.2015.05.017]
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脂质沉积性肌病的分子生物学研究进展()
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《卒中与神经疾病》杂志[ISSN:1007-0478/CN:42-1402/R]

卷:
第22卷
期数:
2015年05期
页码:
311-313
栏目:
综述
出版日期:
2015-09-20

文章信息/Info

文章编号:
1007-0478(2015)05-0311-03
作者:
庞 咪 笪宇威
作者单位:100053 北京首都医科大学宣武医院神经内科[庞 咪 笪宇威(通信作者)]
分类号:
R746.9
DOI:
10.3969/j.issn.1007-0478.2015.05.017
文献标志码:
A

参考文献/References:


1 Wen-Chen Liang·Ichizo Nishino. Lipid storage myopathy. Curr Neorol Neurosci Rep, 2011,11:97-10.
2 Engel AG,Angelini C. Carnitine defieieney of human skeletal musele with assoeiated liPid storage myopathy: a new syndrome.Science,1973,179:899-901.
3 Karpati G,Carpenter S,Engel AG,et al.The syndrome of systemic carnitine deficiency: clinical,morphologic,biochemical,and PathoPhysiologic features.Neurology,1975,25:16-24.
4 Lianshu Han, Fei Wang,Yu Wang, et al.Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.European Journal of Medical Genetics,2014.1-5.
5 Li FY,El-Hattab AW,Bawle EV,et al. Molecular spectrum of SLC22A5(OCTN2)gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat,2010,31(8):e1632-1651.
6 Lan MY,Fu MH,Liu YF,et al.High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.Clin Genet,2010,78:565-569.
7 Wang ZQ,Chen XJ,Murong SX,et al. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency(MADD)in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250 G>A.J Mol Med,2011,89(6):569 -576.
8 Xi J,Wen B,Lin J,et al.Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late - onset multiple acyl -CoA dehydrogenase deficiency. J Inherit Metab Dis,2013,Dec 20.[Epub ahead of print]
9 Roberts DL, Frerman FE, Kim JJ. Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. Proc Natl Acad Sci USA,1996,93:14355-14360.
10 Olsen RK, Olpin SE, Andresen BS, et al(2007)ETFDH mutation as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain,2007,130:2045-2054.
11 Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused bymutations in the electron-transferring-flavoprotein dehydrogenase(ETFDH)gene. Brain,2007,130:2037-2044.
12 Wen B, Dai T, Li W,et al(2010)Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry,2010,81:231-236.
13 Wasant P, Kuptanon C, Vattanavicharn N, et al. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. Pediatr Neurol, 2010,43:279-282.
14 Er TK, Liang WC, Chang JG, et al. High resolution melting analysis facilitates mutations creening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Clin Chim Acta,2010,411:690-699.
15 Fischer J, Lefv`re C, Morava E, et al.The gene encoding adipose triglyceride lipase(PNPLA2)is mutated in neutral lipid storage disease with myopathy. Nat Genet, 2007, 39:28-30.
16 Lefe`vre C, Jobard F, Caux F,et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin Dorfman syndrome. Am J Hum Genet,2001,69:1002-1101.
17 Lefe`vre C, Jobard F, Caux F,et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin Dorfman syndrome. Am J Hum Genet,2001,69:1002-1101.
18 Corti S, Bordoni A, Ronchi A,et al. Clinical features and new molecularfindings in carnitine palmitoyltransferase II(CPT II)deficiency. J Neurrol Sci,2008,266:97-103.
19 Murthy MSR, Pande SV. Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane. Proc Natl Acad Sci USA,1987,84:378-382.
20 Fanin M, Anichini A, Cassandrini D,et al. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Clin Genet,2011,82:232-239.

备注/Memo

备注/Memo:
2014-12-04收稿
更新日期/Last Update: 2015-09-20