Concepedia

Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Danhua Zhao, Daojun Hong, Wei Zhang, Sheng Yao, Xiaokun Qi, He Lv, Riliang Zheng, Liqun Feng, Yining Huang, Yun Yuan,

Journal of Human Genetics · 2011 · 48 citations · 35 references

Concepts

Life SciencesGeneticsMolecular GeneticsMedical GeneticsMitochondrial BiologyMitochondrial GeneticsEnzyme DeficienciesMitochondrial BiochemistryMitochondrial DiseaseMitochondrial DisordersMitochondrial MetabolismMitochondrial PhysiologyCommon Cause AnalysisLactate AcidosisLactic AcidosisMitochondrial Disease GeneticsMitochondrial Enzyme DeficienciesMitochondrial MyopathiesMitochondrial Stroke-like Episodes

References

35

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

Medicine, Genetics, Molecular Genetics +12

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +11

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz‐Pesini, Marie T. Lott, Vincent Procaccio et al. · Nucleic Acids Research · 2006 · 675 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 582 citations

Life Sciences, Genetics, Neurology +8

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Yu‐ichi Goto, Satoshi Horai, T. Matsuoka et al. · Neurology · 1992 · 396 citations

Life Sciences, Genetics, Molecular Genetics +17