Clinical and genetic analysis of lipid storage myopathies.
作者： Aya Ohkuma , Satoru Noguchi , Hideo Sugie , May Christine V. Malicdan , Tokiko Fukuda
DOI: 10.1002/MUS.21167
关键词: Biology 、 SLC22A5 、 Genetic analysis 、 Coenzyme Q – cytochrome c reductase 、 Myopathy 、 Neutral lipid storage disease 、 Mutation 、 Endocrinology 、 Internal medicine 、 Carnitine 、 Ichthyosis
摘要: ABSTRACT: Causative genes have been identified only in four types oflipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency(PCD); ETFA , ETFB and ETFDH multiple acyl-coenzyme A dehydroge-nation deficiency (MADD); PNPLA2 neutral lipid disease withmyopathy (NLSDM); ABHD5 withichthyosis. However, the frequency of these LSMs has not determined.We found mutations 9 37 LSM patients (24%): 3 ;4inMADD-associated genes; 2 . This low suggeststhe existence other causative Muscle coenzyme Q 10 levels werenormal or mildly reduced two MADD patients, indicating that ETFDHmutations may always be associated with CoQ deficiency. The 2patients had progressive, non-episodic muscledisease rimmed vacuoles. suggests there is a different patho-mechanism from LSMs. Nerve 39: 333–342, 2009 CLINICAL AND GENETIC ANALYSISOF LIPID STORAGE MYOPATHIES
sci-hub.se 参考文章(23)
Y. Ohashi, Y. Hasegawa, K. Murayama, M. Ogawa, T. Hasegawa, M. Kawai, N. Sakata, K. Yoshida, H. Yarita, K. Imai, I. Kumagai, K. Murakami, H. Hasegawa, S. Noguchi, I. Nonaka, S. Yamaguchi, I. Nishino, A new diagnostic test for VLCAD deficiency using immunohistochemistry. Neurology. ,vol. 62, pp. 2209- 2213 ,(2004) , 10.1212/01.WNL.0000130486.54839.15
Guenter Haemmerle, Robert Zimmermann, Marianne Hayn, Christian Theussl, Georg Waeg, Elke Wagner, Wolfgang Sattler, Thomas M. Magin, Erwin F. Wagner, Rudolf Zechner, Hormone-sensitive Lipase Deficiency in Mice Causes Diglyceride Accumulation in Adipose Tissue, Muscle, and Testis Journal of Biological Chemistry. ,vol. 277, pp. 4806- 4815 ,(2002) , 10.1074/JBC.M110355200
Aya Ohkuma, Ikuya Nonaka, May Christine V. Malicdan, Satoru Noguchi, Satoru Ohji, Kyoichi Nomura, Hideo Sugie, Yukiko K. Hayashi, Ichizo Nishino, Distal lipid storage myopathy due to PNPLA2 mutation. Neuromuscular Disorders. ,vol. 18, pp. 671- 674 ,(2008) , 10.1016/J.NMD.2008.06.382
Thomas Deufel, Otto H. Wieland, Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination. Clinica Chimica Acta. ,vol. 135, pp. 247- 251 ,(1983) , 10.1016/0009-8981(83)90142-0
T. Matsuishi, K. Hirata, K. Terasawa, H. Kato, M. Yoshino, E. Ohtaki, F. Hirose, I. Nonaka, N. Sugiyama, K. Ohta, Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Neuropediatrics. ,vol. 16, pp. 6- 12 ,(1985) , 10.1055/S-2008-1052536
Jerry Vockley, David AH Whiteman, Defects of mitochondrial β-oxidation: a growing group of disorders Neuromuscular Disorders. ,vol. 12, pp. 235- 246 ,(2002) , 10.1016/S0960-8966(01)00308-X
Judith Fischer, Caroline Lefèvre, Eva Morava, Jean-Marie Mussini, Pascal Laforêt, Anne Negre-Salvayre, Mark Lathrop, Robert Salvayre, The gene encoding adipose triglyceride lipase ( PNPLA2 ) is mutated in neutral lipid storage disease with myopathy Nature Genetics. ,vol. 39, pp. 28- 30 ,(2007) , 10.1038/NG1951
Sylvia Stöckler, Herbert Radner, Eva Felizitas Karpf, Almuth Hauer, Franz Ebner, Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency) The Journal of Pediatrics. ,vol. 124, pp. 601- 604 ,(1994) , 10.1016/S0022-3476(05)83142-7
Masashi Akiyama, Kaori Sakai, Masaya Ogawa, James R. McMillan, Daisuke Sawamura, Hiroshi Shimizu, Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Muscle & Nerve. ,vol. 36, pp. 856- 859 ,(2007) , 10.1002/MUS.20869
Jun-ichi Takanashi, Katsunori Fujii, Katsuo Sugita, Yoichi Kohno, Neuroradiologic findings in glutaric aciduria type II. Pediatric Neurology. ,vol. 20, pp. 142- 145 ,(1999) , 10.1016/S0887-8994(98)00118-0