Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028997150> ?p ?o ?g. }
- W2028997150 endingPage "43" @default.
- W2028997150 startingPage "27" @default.
- W2028997150 abstract "The mitochondrial encephalomyopathies are a genetically heterogeneous group of disorders associated with impaired oxidative phosphorylation. Patients may exhibit a wide range of clinical symptoms and experience significant morbidity and mortality. There is currently no curative treatment. At present the majority of genetically defined mitochondrial encephalomyopathies are caused by mutations in mitochondrial DNA. The underlying molecular mechanisms and the complex relationship between genotype and phenotype in these mitochondrial DNA diseases remain only partially understood. We describe the key features of mitochondrial DNA genetics and outline some of the common disease phenotypes associated with mtDNA defects. A classification of pathogenic mitochondrial DNA point mutations which may have therapeutic implications is outlined." @default.
- W2028997150 created "2016-06-24" @default.
- W2028997150 creator A5009171206 @default.
- W2028997150 creator A5030026015 @default.
- W2028997150 date "2001-07-01" @default.
- W2028997150 modified "2023-09-26" @default.
- W2028997150 title "Human mitochondrial DNA diseases" @default.
- W2028997150 cites W1490199160 @default.
- W2028997150 cites W1528362997 @default.
- W2028997150 cites W1543750124 @default.
- W2028997150 cites W1964630690 @default.
- W2028997150 cites W1966276039 @default.
- W2028997150 cites W1967496357 @default.
- W2028997150 cites W1968622987 @default.
- W2028997150 cites W1969800345 @default.
- W2028997150 cites W1972140717 @default.
- W2028997150 cites W1972141670 @default.
- W2028997150 cites W1972154486 @default.
- W2028997150 cites W1972900422 @default.
- W2028997150 cites W1972925152 @default.
- W2028997150 cites W1975094936 @default.
- W2028997150 cites W1976450563 @default.
- W2028997150 cites W1977888540 @default.
- W2028997150 cites W1978476989 @default.
- W2028997150 cites W1980681204 @default.
- W2028997150 cites W1981557089 @default.
- W2028997150 cites W1982360967 @default.
- W2028997150 cites W1982588183 @default.
- W2028997150 cites W1982603859 @default.
- W2028997150 cites W1983168769 @default.
- W2028997150 cites W1989442219 @default.
- W2028997150 cites W1989705623 @default.
- W2028997150 cites W1991896253 @default.
- W2028997150 cites W1992307061 @default.
- W2028997150 cites W1994722171 @default.
- W2028997150 cites W1994982358 @default.
- W2028997150 cites W1997098477 @default.
- W2028997150 cites W1997116394 @default.
- W2028997150 cites W1997195159 @default.
- W2028997150 cites W1997634197 @default.
- W2028997150 cites W1998078998 @default.
- W2028997150 cites W2002109630 @default.
- W2028997150 cites W2003218116 @default.
- W2028997150 cites W2003318822 @default.
- W2028997150 cites W2003931544 @default.
- W2028997150 cites W2006945206 @default.
- W2028997150 cites W2007122274 @default.
- W2028997150 cites W2011085365 @default.
- W2028997150 cites W201150018 @default.
- W2028997150 cites W2011809681 @default.
- W2028997150 cites W2011820592 @default.
- W2028997150 cites W2012242312 @default.
- W2028997150 cites W2012438556 @default.
- W2028997150 cites W2016156772 @default.
- W2028997150 cites W2016254652 @default.
- W2028997150 cites W2016754626 @default.
- W2028997150 cites W2017347785 @default.
- W2028997150 cites W2018241890 @default.
- W2028997150 cites W2018334906 @default.
- W2028997150 cites W2020124142 @default.
- W2028997150 cites W2020921188 @default.
- W2028997150 cites W2021674095 @default.
- W2028997150 cites W2022312470 @default.
- W2028997150 cites W2023398617 @default.
- W2028997150 cites W2023888590 @default.
- W2028997150 cites W2026384309 @default.
- W2028997150 cites W2029597421 @default.
- W2028997150 cites W2030093559 @default.
- W2028997150 cites W2031843569 @default.
- W2028997150 cites W2032638337 @default.
- W2028997150 cites W2034369428 @default.
- W2028997150 cites W2037204981 @default.
- W2028997150 cites W2038796088 @default.
- W2028997150 cites W2038967065 @default.
- W2028997150 cites W2039243132 @default.
- W2028997150 cites W2039307902 @default.
- W2028997150 cites W2041285746 @default.
- W2028997150 cites W2042649193 @default.
- W2028997150 cites W2043779724 @default.
- W2028997150 cites W2044877212 @default.
- W2028997150 cites W2045254914 @default.
- W2028997150 cites W2045409504 @default.
- W2028997150 cites W2047034700 @default.
- W2028997150 cites W2047176277 @default.
- W2028997150 cites W2048066883 @default.
- W2028997150 cites W2048286421 @default.
- W2028997150 cites W2051975358 @default.
- W2028997150 cites W2052035658 @default.
- W2028997150 cites W2053141759 @default.
- W2028997150 cites W2056712045 @default.
- W2028997150 cites W2056807771 @default.
- W2028997150 cites W2057403340 @default.
- W2028997150 cites W2057679880 @default.
- W2028997150 cites W2058151839 @default.
- W2028997150 cites W2058842496 @default.
- W2028997150 cites W2060514152 @default.
- W2028997150 cites W2061781345 @default.
- W2028997150 cites W2062418249 @default.