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| 090 | _aB-16409 | ||
| 245 | 1 | 0 | _aThe clinical maze of mitochondrial neurology |
| 490 | 0 | _vNature Reviews Neurology, 9(8), p.429-444, 2013 | |
| 520 | 3 | _aMitochondrial diseases involve the respiratory chain, which is under the dual control of nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides one explanation for the clinical heterogeneity of mitochondrial diseases, but our understanding of disease pathogenesis remains limited. Classification of Mendelian mitochondrial encephalomyopathies has been laborious, but whole-exome sequencing studies have revealed unexpected molecular aetiologies for both typical and atypical mitochondrial disease phenotypes. Mendelian mitochondrial defects can affect five components of mitochondrial biology: subunits of respiratory chain complexes (direct hits); mitochondrial assembly proteins; mtDNA translation; phospholipid composition of the inner mitochondrial membrane; or mitochondrial dynamics. A sixth category - defects of mtDNA maintenance - combines features of Mendelian and mitochondrial genetics. Genetic defects in mitochondrial dynamics are especially important in neurology as they cause optic atrophy, hereditary spastic paraplegia, and Charcot-Marie-Tooth disease. Therapy is inadequate and mostly palliative, but promising new avenues are being identified. Here, we review current knowledge on the genetics and pathogenesis of the six categories of mitochondrial disorders outlined above, focusing on their salient clinical manifestations and highlighting novel clinical entities. An outline of diagnostic clues for the various forms of mitochondrial disease, as well as potential therapeutic strategies, is also discussed. © 2013 Macmillan Publishers Limited. All rights reserved. | |
| 650 | 1 | 4 | _aBIOCHEMISTRY |
| 650 | 1 | 4 | _aCHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA |
| 650 | 1 | 4 | _aCLINICAL FEATURE |
| 650 | 1 | 4 | _aDISEASE CLASSIFICATION |
| 650 | 1 | 4 | _aDISORDERS OF MITOCHONDRIAL FUNCTIONS |
| 650 | 1 | 4 | _aEXOME |
| 650 | 1 | 4 | _aFAMILY HISTORY |
| 650 | 1 | 4 | _aGENE MUTATION |
| 650 | 1 | 4 | _aGENE THERAPY |
| 650 | 1 | 4 | _aGENETIC DISORDER |
| 650 | 1 | 4 | _aHEREDITARY MOTOR SENSORY NEUROPATHY |
| 650 | 1 | 4 | _aHETEROPLASMY |
| 650 | 1 | 4 | _aHUMAN |
| 650 | 1 | 4 | _aKEARNS SAYRE SYNDROME |
| 650 | 1 | 4 | _aLABORATORY TEST |
| 650 | 1 | 4 | _aLABORATORY TEST |
| 650 | 1 | 4 | _aLIPID COMPOSITION |
| 650 | 1 | 4 | _aMELAS SYNDROME |
| 650 | 1 | 4 | _aMERRF SYNDROME |
| 650 | 1 | 4 | _aMILS SYNDROME |
| 650 | 1 | 4 | _aMITOCHONDRIAL ENCEPHALOMYOPATHY |
| 650 | 1 | 4 | _aMITOCHONDRIAL MEMBRANE |
| 650 | 1 | 4 | _aMUSCLE BIOPSY |
| 650 | 1 | 4 | _aNARP SYNDROME |
| 650 | 1 | 4 | _aNONHUMAN |
| 650 | 1 | 4 | _aOPTIC NERVE ATROPHY |
| 650 | 1 | 4 | _aPALLIATIVE THERAPY |
| 650 | 1 | 4 | _aPATHOGENESIS |
| 650 | 1 | 4 | _aPEARSON SYNDROME |
| 650 | 1 | 4 | _aPRIORITY JOURNAL |
| 650 | 1 | 4 | _aREPLISOME |
| 650 | 1 | 4 | _aRESPIRATORY CHAIN |
| 650 | 1 | 4 | _aREVIEW |
| 650 | 1 | 4 | _aRNA TRANSLATION |
| 700 | 1 | 2 | _aDimauro, S. |
| 700 | 1 | 2 | _aSchon, E.A. |
| 700 | 1 | 2 | _aCarelli, V. |
| 700 | 1 | 2 | _aHirano, M. |
| 856 | 4 | 0 |
_uhttps://drive.google.com/file/d/1qUpimsVIuiGHgx2oIv5LCbh7YI1_Q0Vg/view?usp=drivesdk _zPara ver el documento ingresa a Google con tu cuenta: @cicy.edu.mx |
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