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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 3, 2024. (Total: 233167Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Mitochondrial Myopathy With Lactic Acidosis[original query]
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.
American journal of human genetics 2003 Apr 72 (4): 1005-12.
Torroni Antonio, Campos Yolanda, Rengo Chiara, Sellitto Daniele, Achilli Alessandro, Magri Chiara, Semino Ornella, García Alberto, Jara Pilar, Arenas Joaquín, Scozzari Rosar
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
Italian heart journal : official journal of the Italian Federation of Cardiology 2004 Jun 5 (6): 460-5.
Menotti Francesca, Brega Agnese, Diegoli Marta, Grasso Maurizia, Modena Maria Grazia, Arbustini Eloi
A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance.
Acta diabetologica 2004 Dec 41 (4): 179-84.
Martin-Kleiner I, Pape-Medvidovi? E, Pavli?-Renar I, Metelko Z, Kusec R, Gabrilovac J, Borani?
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Archives of neurology 2009 Jan 66 (1): 85-91.
Kaufmann Petra, Engelstad Kristin, Wei Ying, Kulikova Romana, Oskoui Maryam, Battista Vanessa, Koenigsberger Dorcas Y, Pascual Juan M, Sano Mary, Hirano Michio, DiMauro Salvatore, Shungu Dikoma C, Mao Xiangling, De Vivo Darryl
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
Archives of neurology 2010 Aug 67 (8): 976-9.
Parsons Timothy, Weimer Louis, Engelstad Kristin, Linker Alex, Battista Vanessa, Wei Ying, Hirano Michio, Dimauro Salvatore, De Vivo Darryl C, Kaufmann Pet
Patients with MELAS with negative myopathology for characteristic ragged-red fibers.
Journal of the neurological sciences 2019 11 408 116499.
Lu Yuanyuan, Deng Jianwen, Zhao Yuying, Zhang Zhe, Hong Daojun, Yao Sheng, Zhao Danhua, Xie Jie, Fang Hezhi, Yuan Yun, Wang Zhaox
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