TY - JOUR
T1 - Mitochondrial myopathies
AU - DiMauro, S.
AU - Bonilla, E.
AU - Zeviani, M.
AU - Nakagawa, M.
AU - DeVivo, D. C.
PY - 1985
Y1 - 1985
N2 - Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns-Sayre syndrome; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation-phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal inheritance.
AB - Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns-Sayre syndrome; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation-phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal inheritance.
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U2 - 10.1002/ana.410170602
DO - 10.1002/ana.410170602
M3 - Article
C2 - 3927817
AN - SCOPUS:0021798888
VL - 17
SP - 521
EP - 538
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -