Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001999839> ?p ?o ?g. }
- W2001999839 endingPage "41" @default.
- W2001999839 startingPage "35" @default.
- W2001999839 abstract "Mitochondria are ubiquitous organelles and play crucial roles in vital functions, most importantly, the oxidative phosphorylation and energy metabolism. Therefore, mitochondrial dysfunction can affect multiple tissues, with muscle and nerve preferentially affected. Mitochondrial myopathy is a common clinical phenotype, which is characterized by early fatigue and/or fixed muscle weakness; rhabdomyolysis can seldom occur. Muscle biopsy often identifies signs of diseased mitochondria by morphological studies, while biochemical analysis may identify respiratory chain deficiencies. The clinical, morphological and biochemical data guide molecular analysis. Being the mitochondrial function under the control of both mitochondrial DNA and nuclear DNA, the search for mitochondrial DNA mutations and mitochondrial DNA quantitation, may not be sufficient for the molecular diagnosis of mitochondrial myopathies. Approximately 1500 nuclear genes can affect mitochondrial structure and function and the targeting of such genes may be necessary to reach the diagnosis. The identification of causative molecular defects in nuclear or mitochondrial genome leads to the definite diagnosis of mitochondrial myopathy." @default.
- W2001999839 created "2016-06-24" @default.
- W2001999839 creator A5007074587 @default.
- W2001999839 creator A5075451524 @default.
- W2001999839 date "2013-09-01" @default.
- W2001999839 modified "2023-10-12" @default.
- W2001999839 title "Diagnosis of mitochondrial myopathies" @default.
- W2001999839 cites W1481324524 @default.
- W2001999839 cites W1524607854 @default.
- W2001999839 cites W1535907462 @default.
- W2001999839 cites W1551996591 @default.
- W2001999839 cites W1665535554 @default.
- W2001999839 cites W1802805705 @default.
- W2001999839 cites W1963513192 @default.
- W2001999839 cites W1967303222 @default.
- W2001999839 cites W1972301305 @default.
- W2001999839 cites W1974664647 @default.
- W2001999839 cites W1975353281 @default.
- W2001999839 cites W1975705394 @default.
- W2001999839 cites W1979288653 @default.
- W2001999839 cites W1986529098 @default.
- W2001999839 cites W1990840796 @default.
- W2001999839 cites W1993127259 @default.
- W2001999839 cites W1995152144 @default.
- W2001999839 cites W1998792500 @default.
- W2001999839 cites W2002334655 @default.
- W2001999839 cites W2006754739 @default.
- W2001999839 cites W2006945206 @default.
- W2001999839 cites W2007845694 @default.
- W2001999839 cites W2011809681 @default.
- W2001999839 cites W2024822722 @default.
- W2001999839 cites W2027158626 @default.
- W2001999839 cites W2028278441 @default.
- W2001999839 cites W2029707526 @default.
- W2001999839 cites W2030833218 @default.
- W2001999839 cites W2031603359 @default.
- W2001999839 cites W2033410366 @default.
- W2001999839 cites W2037049906 @default.
- W2001999839 cites W2038437129 @default.
- W2001999839 cites W2039914603 @default.
- W2001999839 cites W2044126035 @default.
- W2001999839 cites W2045528132 @default.
- W2001999839 cites W2052457527 @default.
- W2001999839 cites W2055537742 @default.
- W2001999839 cites W2057663059 @default.
- W2001999839 cites W2057691269 @default.
- W2001999839 cites W2058753163 @default.
- W2001999839 cites W2061744036 @default.
- W2001999839 cites W2065246627 @default.
- W2001999839 cites W2067423049 @default.
- W2001999839 cites W2068354638 @default.
- W2001999839 cites W2068739566 @default.
- W2001999839 cites W2071808823 @default.
- W2001999839 cites W2072397420 @default.
- W2001999839 cites W2072797369 @default.
- W2001999839 cites W2076224048 @default.
- W2001999839 cites W2078712151 @default.
- W2001999839 cites W2078823038 @default.
- W2001999839 cites W2079572258 @default.
- W2001999839 cites W2084093241 @default.
- W2001999839 cites W2085752695 @default.
- W2001999839 cites W2089111147 @default.
- W2001999839 cites W2090056841 @default.
- W2001999839 cites W2091694632 @default.
- W2001999839 cites W2094421676 @default.
- W2001999839 cites W2095150486 @default.
- W2001999839 cites W2098151244 @default.
- W2001999839 cites W2098651431 @default.
- W2001999839 cites W2102445981 @default.
- W2001999839 cites W2103349112 @default.
- W2001999839 cites W2107759081 @default.
- W2001999839 cites W2107972255 @default.
- W2001999839 cites W2109359226 @default.
- W2001999839 cites W2114201525 @default.
- W2001999839 cites W2115801941 @default.
- W2001999839 cites W2116261986 @default.
- W2001999839 cites W2120615239 @default.
- W2001999839 cites W2125913729 @default.
- W2001999839 cites W2125977147 @default.
- W2001999839 cites W2128481350 @default.
- W2001999839 cites W2130057262 @default.
- W2001999839 cites W2130733383 @default.
- W2001999839 cites W2136408833 @default.
- W2001999839 cites W2138704587 @default.
- W2001999839 cites W2139300390 @default.
- W2001999839 cites W2143108667 @default.
- W2001999839 cites W2147443412 @default.
- W2001999839 cites W2150245289 @default.
- W2001999839 cites W2151271025 @default.
- W2001999839 cites W2151698573 @default.
- W2001999839 cites W2152585412 @default.
- W2001999839 cites W2153275586 @default.
- W2001999839 cites W2158145413 @default.
- W2001999839 cites W2163572789 @default.
- W2001999839 cites W2422087709 @default.
- W2001999839 cites W4210805057 @default.
- W2001999839 cites W4235643319 @default.
- W2001999839 cites W4244647820 @default.