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1 s syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopathy.
2 Gradually, she developed symptoms of a mitochondrial encephalomyopathy.
3 COX deficiency is the most frequent cause of mitochondrial encephalomyopathies.
4 The most frequent clinical presentation was mitochondrial encephalomyopathy (63%); however, a number
5 stand the mechanisms underlying COX-mediated mitochondrial encephalomyopathies and to explore possibl
6 plasmic mutations including 3243A>G, causing mitochondrial encephalomyopathy and stroke-like episodes
10 del has recently been associated with severe mitochondrial encephalomyopathy in two infants by impair
11 terature concerning renal involvement in the mitochondrial encephalomyopathies, including MELAS, and
12 t were up-regulated in RRFs of patients with mitochondrial encephalomyopathies; it is noteworthy that
13 l as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stro
14 (AQM), amyotrophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and str
15 on was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and st
16 r, the tRNA(Leu(UUR)) A3243G mutation causes mitochondrial encephalomyopathy, lactic acidosis, and st
17 f several mitochondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and st
18 ase mutation in mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and st
20 ncoded structural subunit of COX that causes mitochondrial encephalomyopathy rather than lethality, w
21 ding normal controls and patients with other mitochondrial encephalomyopathies, thus fulfilling accep
22 tisystem diseases with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurod
23 ditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and
24 cause severe multisystemic disorders such as mitochondrial encephalomyopathy with lactic acidosis and
25 l, and muscle biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and
26 number of pedigrees that carried either the mitochondrial encephalomyopathy with lactic acidosis and
28 ndrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and
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