ライフサイエンスコーパス: mitochondrial myopathy

1 induce mitochondrial biogenesis in mice with mitochondrial myopathy.

2 A(Met) (hmtRNA(Met)) has been found to cause mitochondrial myopathy.

3 ntegral to the disease mechanism, leading to mitochondrial myopathy.

4 ine whether Ant1-/- mice also exhibit an EOM mitochondrial myopathy.

5 syndrome is an X-linked cardiac and skeletal mitochondrial myopathy.

6 ria, are linked to several diseases, such as mitochondrial myopathy.

7 ay be useful in the diagnostic evaluation of mitochondrial myopathy.

8 might contribute to exercise intolerance and mitochondrial myopathies.

9 iabetes, deafness, encephalopathy, and other mitochondrial myopathies.

10 elp predict the progression pattern of human mitochondrial myopathies.

11 in situations of muscle stress, particularly mitochondrial myopathies.

12 tional limitation secondary to biopsy-proven mitochondrial myopathies.

13 ld be added to the differential diagnosis of mitochondrial myopathies.

14 I fibers in the muscle of many patients with mitochondrial myopathies.

15 milar clinical observations in children with mitochondrial myopathies [16].

16 we report a patient with APL who developed a mitochondrial myopathy after treatment with ATO.

17 mised skeletal muscle bioenergetics, such as mitochondrial myopathies and age-related/disease-associa

18 ical, and histochemical abnormalities in the mitochondrial myopathies and encephalomyopathies.

19 ndria-targeted antioxidants for treatment of mitochondrial myopathies and other healthspan-limiting d

20 aac2(A137D) allele mimicking ant1(A123D) in mitochondrial myopathy and cardiomyopathy exhibits simil

21 rogressive External Ophthalmoplegia (adPEO), mitochondrial myopathy and cardiomyopathy, which are com

22 though the offspring consistently developed mitochondrial myopathy and cardiomyopathy.

23 sive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy.

24 tabolic and physiological characteristics of mitochondrial myopathy and cardiomyopathy.

25 ise, and during recovery in 13 patients with mitochondrial myopathy and exercise intolerance and in 1

26 ity of oxidative impairment in patients with mitochondrial myopathy and exercise intolerance.

27 simple genetic test to identify infants with mitochondrial myopathy and good prognosis.

28 oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency

29 ese results contrast with similar studies in mitochondrial myopathy and Parkinson's disease patients,

30 Mitochondrial myopathy and sideroblastic anemia (MLASA)

31 onserved amino acid has been associated with mitochondrial myopathy and sideroblastic anemia (MLASA),

32 a delayed, severe, and partially reversible mitochondrial myopathy, and a long-term careful surveill

33 ing of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also

34 sociated with exercise intolerance, signs of mitochondrial myopathy, and short stature.

35 The most recently described mitochondrial myopathies are due to defects in nuclear D

36 Most recently described mitochondrial myopathies are due to defects in nuclear D

37 We conclude that mitochondrial myopathies are more prevalent than previou

38 PstI sites, transgenic founders developed a mitochondrial myopathy associated with mtDNA depletion.

39 work and oxidative capacity in patients with mitochondrial myopathies, but the mechanisms underlying

40 Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with a

41 Barth syndrome, an X-linked recessive mitochondrial myopathy/cardiopathy, is associated with d

42 The pathogenic mechanisms underlying the mitochondrial myopathy caused by ANT1 mutations remain l

43 ld be considered in patients presenting with mitochondrial myopathy, characterized by exercise intole

44 ing levels of long-chain triacylglycerols in mitochondrial myopathy correlate with the severity of OX

45 icial in a mouse model of slowly progressing mitochondrial myopathy (Cox10-Mef2c-Cre), and whether th

46 ociated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, an

47 e A3243G mutation associated with the MELAS (Mitochondrial Myopathy, Encephalopathy with Lactic Acido

48 with regionalized oxidative stress, such as mitochondrial myopathy, encephalopathy, and lactic acido

49 MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis,

50 cause of severe inherited syndromes, such as mitochondrial myopathy, encephalopathy, lactic acidosis,

51 (UUR)) A3243G transition associated with the mitochondrial myopathy, encephalopathy, lactic acidosis,

52 Mitochondrial myopathy, encephalopathy, lactic acidosis,

53 n the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis,

54 cal aberrations with features reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy

55 McArdle disease and mitochondrial myopathy impair muscle oxidative phosphory

56 atellite cells remain a viable treatment for mitochondrial myopathies in specific patient groups.

57 However, there is also a sporadic form of mitochondrial myopathy in which exercise intolerance is

58 Ant1-/- EOMs had the typical appearance of mitochondrial myopathy, including increase in mitochondr

59 ochondrial DNA (mtDNA) from a patient with a mitochondrial myopathy into established mtDNA-less human

60 ired skeletal muscle oxidative metabolism in mitochondrial myopathies is a limited ability to increas

61 The sporadic form of mitochondrial myopathy is associated with somatic mutati

62 g the subunits of the bc1 complex, result in mitochondrial myopathies, many of which are a direct res

63 ith biochemically and/or molecularly defined mitochondrial myopathy (MM) associated with varying leve

64 ut (Ant1-/-) mice develop cardiomyopathy and mitochondrial myopathy of limb muscles.

65 rtially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipien

66 ated venous PO(2) during forearm exercise in mitochondrial myopathy patients (32 to 82mmHg) correlate

67 exercise venous PO(2) paradoxically rose in mitochondrial myopathy patients from 27.2 +/- 4.0mmHg to

68 e of the commonest genotypes associated with mitochondrial myopathies (patients with single, large-sc

69 ould continue to be offered to patients with mitochondrial myopathies pending the results of evaluati

70 The clinical and genetic heterogeneity of mitochondrial myopathies presents considerable diagnosti

71 Treatment options for mitochondrial myopathies remain limited despite rapid ad

72 progressive syndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripher

73 s in muscular dystrophy, myotonic dystrophy, mitochondrial myopathy, spinal muscular atrophy, and her

74 The mitochondrial myopathies typically affect many organ sys

75 erature review on ultrastructural defects in mitochondrial myopathy, we investigated skeletal muscle

76 t onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified.

77 Mitochondrial myopathy with lactic acidosis and siderobl

78 shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondria