TY  - BOOK
AU  - Dimauro,S.
AU  - Schon,E.A.
AU  - Carelli,V.
AU  - Hirano,M.
TI  - The clinical maze of mitochondrial neurology
KW  - BIOCHEMISTRY
KW  - CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
KW  - CLINICAL FEATURE
KW  - DISEASE CLASSIFICATION
KW  - DISORDERS OF MITOCHONDRIAL FUNCTIONS
KW  - EXOME
KW  - FAMILY HISTORY
KW  - GENE MUTATION
KW  - GENE THERAPY
KW  - GENETIC DISORDER
KW  - HEREDITARY MOTOR SENSORY NEUROPATHY
KW  - HETEROPLASMY
KW  - HUMAN
KW  - KEARNS SAYRE SYNDROME
KW  - LABORATORY TEST
KW  - LIPID COMPOSITION
KW  - MELAS SYNDROME
KW  - MERRF SYNDROME
KW  - MILS SYNDROME
KW  - MITOCHONDRIAL ENCEPHALOMYOPATHY
KW  - MITOCHONDRIAL MEMBRANE
KW  - MUSCLE BIOPSY
KW  - NARP SYNDROME
KW  - NONHUMAN
KW  - OPTIC NERVE ATROPHY
KW  - PALLIATIVE THERAPY
KW  - PATHOGENESIS
KW  - PEARSON SYNDROME
KW  - PRIORITY JOURNAL
KW  - REPLISOME
KW  - RESPIRATORY CHAIN
KW  - REVIEW
KW  - RNA TRANSLATION
N2  - Mitochondrial 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
UR  - https://drive.google.com/file/d/1qUpimsVIuiGHgx2oIv5LCbh7YI1_Q0Vg/view?usp=drivesdk
ER  -