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1 nalyses of skeletal muscle revealed signs of mitochondrial myopathy.
2 induce mitochondrial biogenesis in mice with mitochondrial myopathy.
3 A(Met) (hmtRNA(Met)) has been found to cause mitochondrial myopathy.
4 ntegral to the disease mechanism, leading to mitochondrial myopathy.
5 ine whether Ant1-/- mice also exhibit an EOM mitochondrial myopathy.
6 syndrome is an X-linked cardiac and skeletal mitochondrial myopathy.
7 ay be useful in the diagnostic evaluation of mitochondrial myopathy.
8 ria, are linked to several diseases, such as mitochondrial myopathy.
9 g positive effects in muscles afflicted with mitochondrial myopathy.
10 might contribute to exercise intolerance and mitochondrial myopathies.
11 iabetes, deafness, encephalopathy, and other mitochondrial myopathies.
12 elp predict the progression pattern of human mitochondrial myopathies.
13 tional limitation secondary to biopsy-proven mitochondrial myopathies.
14 ld be added to the differential diagnosis of mitochondrial myopathies.
15 I fibers in the muscle of many patients with mitochondrial myopathies.
16 in situations of muscle stress, particularly mitochondrial myopathies.
17 milar clinical observations in children with mitochondrial myopathies [16].
18 we report a patient with APL who developed a mitochondrial myopathy after treatment with ATO.
19 mised skeletal muscle bioenergetics, such as mitochondrial myopathies and age-related/disease-associa
20 ical, and histochemical abnormalities in the mitochondrial myopathies and encephalomyopathies.
21 ndria-targeted antioxidants for treatment of mitochondrial myopathies and other healthspan-limiting d
22  aac2(A137D) allele mimicking ant1(A123D) in mitochondrial myopathy and cardiomyopathy exhibits simil
23 rogressive External Ophthalmoplegia (adPEO), mitochondrial myopathy and cardiomyopathy, which are com
24 sive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy.
25  though the offspring consistently developed mitochondrial myopathy and cardiomyopathy.
26 tabolic and physiological characteristics of mitochondrial myopathy and cardiomyopathy.
27 phy Jokela-type, isolated autosomal dominant mitochondrial myopathy and cardiomyopathy.
28 ise, and during recovery in 13 patients with mitochondrial myopathy and exercise intolerance and in 1
29 ity of oxidative impairment in patients with mitochondrial myopathy and exercise intolerance.
30 simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
31 oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency
32 ese results contrast with similar studies in mitochondrial myopathy and Parkinson's disease patients,
33                                              Mitochondrial myopathy and sideroblastic anemia (MLASA)
34 onserved amino acid has been associated with mitochondrial myopathy and sideroblastic anemia (MLASA),
35 lead to severe neurodegenerative conditions, mitochondrial myopathies, and metabolic diseases.
36  a delayed, severe, and partially reversible mitochondrial myopathy, and a long-term careful surveill
37 ing of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also
38 sociated with exercise intolerance, signs of mitochondrial myopathy, and short stature.
39                  The most recently described mitochondrial myopathies are due to defects in nuclear D
40                      Most recently described mitochondrial myopathies are due to defects in nuclear D
41                             We conclude that mitochondrial myopathies are more prevalent than previou
42                                              Mitochondrial myopathies are often caused by heteroplasm
43   Both patients had exercise intolerance and mitochondrial myopathy associated with biallelic variant
44  PstI sites, transgenic founders developed a mitochondrial myopathy associated with mtDNA depletion.
45 work and oxidative capacity in patients with mitochondrial myopathies, but the mechanisms underlying
46        Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with a
47        Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with d
48     The pathogenic mechanisms underlying the mitochondrial myopathy caused by ANT1 mutations remain l
49 ld be considered in patients presenting with mitochondrial myopathy, characterized by exercise intole
50 ing levels of long-chain triacylglycerols in mitochondrial myopathy correlate with the severity of OX
51 icial in a mouse model of slowly progressing mitochondrial myopathy (Cox10-Mef2c-Cre), and whether th
52 ociated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, an
53 e A3243G mutation associated with the MELAS (Mitochondrial Myopathy, Encephalopathy with Lactic Acido
54  with regionalized oxidative stress, such as mitochondrial myopathy, encephalopathy, and lactic acido
55                              MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis,
56 cause of severe inherited syndromes, such as mitochondrial myopathy, encephalopathy, lactic acidosis,
57 (UUR)) A3243G transition associated with the mitochondrial myopathy, encephalopathy, lactic acidosis,
58                                              Mitochondrial myopathy, encephalopathy, lactic acidosis,
59 n the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis,
60 ng effect on variants associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis,
61 cal aberrations with features reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy
62                          McArdle disease and mitochondrial myopathy impair muscle oxidative phosphory
63 atellite cells remain a viable treatment for mitochondrial myopathies in specific patient groups.
64    However, there is also a sporadic form of mitochondrial myopathy in which exercise intolerance is
65   Ant1-/- EOMs had the typical appearance of mitochondrial myopathy, including increase in mitochondr
66 ochondrial DNA (mtDNA) from a patient with a mitochondrial myopathy into established mtDNA-less human
67 ired skeletal muscle oxidative metabolism in mitochondrial myopathies is a limited ability to increas
68                         The sporadic form of mitochondrial myopathy is associated with somatic mutati
69 spiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic distu
70 g the subunits of the bc1 complex, result in mitochondrial myopathies, many of which are a direct res
71 ith biochemically and/or molecularly defined mitochondrial myopathy (MM) associated with varying leve
72 ut (Ant1-/-) mice develop cardiomyopathy and mitochondrial myopathy of limb muscles.
73 rtially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipien
74 ated venous PO(2) during forearm exercise in mitochondrial myopathy patients (32 to 82mmHg) correlate
75  exercise venous PO(2) paradoxically rose in mitochondrial myopathy patients from 27.2 +/- 4.0mmHg to
76 e of the commonest genotypes associated with mitochondrial myopathies (patients with single, large-sc
77 ould continue to be offered to patients with mitochondrial myopathies pending the results of evaluati
78                                      Primary mitochondrial myopathies (PMM) are disorders that involv
79    The clinical and genetic heterogeneity of mitochondrial myopathies presents considerable diagnosti
80                        Treatment options for mitochondrial myopathies remain limited despite rapid ad
81 er, reconstituting mtDNA deletions linked to mitochondrial myopathies remains challenging.
82                          Barth syndrome is a mitochondrial myopathy resulting from mutations in the t
83  progressive syndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripher
84 s in muscular dystrophy, myotonic dystrophy, mitochondrial myopathy, spinal muscular atrophy, and her
85 ed mode of metabolic reprogramming in severe mitochondrial myopathy that regulates disease progressio
86                                          The mitochondrial myopathies typically affect many organ sys
87   Using a mouse model of severe, early-onset mitochondrial myopathy, we characterized the proteomic,
88 erature review on ultrastructural defects in mitochondrial myopathy, we investigated skeletal muscle
89 t onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified.
90 de range of clinical presentations including mitochondrial myopathy with a treatable neuromuscular tr
91 enter of Liver Regeneration (ALR) results in mitochondrial myopathy with cataracts; however, the mech
92                                              Mitochondrial myopathy with lactic acidosis and siderobl
93  shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondria