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1 Gradually, she developed symptoms of a mitochondrial encephalomyopathy.
2 s syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopathy.
3 COX deficiency is the most frequent cause of mitochondrial encephalomyopathies.
4 role of protein degradation abnormalities in mitochondrial encephalomyopathies.
5 The most frequent clinical presentation was mitochondrial encephalomyopathy (63%); however, a number
6 stand the mechanisms underlying COX-mediated mitochondrial encephalomyopathies and to explore possibl
7 and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respirato
8 plasmic mutations including 3243A>G, causing mitochondrial encephalomyopathy and stroke-like episodes
9 bnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in gene
13 del has recently been associated with severe mitochondrial encephalomyopathy in two infants by impair
14 terature concerning renal involvement in the mitochondrial encephalomyopathies, including MELAS, and
15 t were up-regulated in RRFs of patients with mitochondrial encephalomyopathies; it is noteworthy that
16 l as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stro
17 nd underlies a spectrum of diseases, notably mitochondrial encephalomyopathy lactic acidosis and stro
18 of MNRR1 on the mitochondrial disease MELAS (mitochondrial encephalomyopathy, lactic acidosis and str
19 (AQM), amyotrophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and str
20 tors of stroke-like episode in patients with mitochondrial encephalomyopathy, lactic acidosis and str
21 plasmy exceeding a critical threshold causes mitochondrial encephalomyopathy, lactic acidosis with st
22 unrelated patients who had A3243G-associated mitochondrial encephalomyopathy, lactic acidosis, and st
23 ase mutation in mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and st
24 r, the tRNA(Leu(UUR)) A3243G mutation causes mitochondrial encephalomyopathy, lactic acidosis, and st
25 on was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and st
26 f several mitochondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and st
27 uccinyl-CoA ligase (SCL) deficiency causes a mitochondrial encephalomyopathy of unknown pathomechanis
29 ncoded structural subunit of COX that causes mitochondrial encephalomyopathy rather than lethality, w
30 nderstanding of the aetiology of early-onset mitochondrial encephalomyopathy that is supported by ana
31 ding normal controls and patients with other mitochondrial encephalomyopathies, thus fulfilling accep
32 tisystem diseases with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurod
33 ditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and
34 cause severe multisystemic disorders such as mitochondrial encephalomyopathy with lactic acidosis and
35 l, and muscle biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and
36 number of pedigrees that carried either the mitochondrial encephalomyopathy with lactic acidosis and
38 ndrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and