Mitochondrial myopathy
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy
... Primary mitochondrial disorders (PMDs) are a heteroge- neous group of genetic diseases causing impaired mitochon- drial respiration 1–5 and are considered among the most common inherited metabolic disorders in ...
18
MR of the brain in mitochondrial myopathy
... with mitochondrial myopathy and correlate them with central nervous system symptoms and ...with mitochondrial myopathy (three with Kearns-Sayre syndrome and five with chronic progressive ...
7
Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis
... axial myopathy due to a mutation in the mitochondrial tRNA Phe gene ...axial mitochondrial myopathy caused by the accumulation of somatic mtDNA abnormalities, including multiple mtDNA ...
9
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
... been reported previously, functional studies were not undertaken to confirm pathogenicity. Subsequent studies in muscle biopsies of all 5 patients confirm that mutation loads segregated with the mitochon- drial ...
5
Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency Abnormalities of several iron sulfur proteins
... Discussion Previous studies of this patient revealed the following abnormalities: a low oxygen uptake attributable to low systemic arteriovenous 02 difference in peak cycle exercise, con[r] ...
8
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy
... In the article “Randomized dose-escalation trial of elamipretide in adults with primary mito- chondrial myopathy” by A. Karaa et al., 1 there is an error in the last sentence of the “Demographic and other baseline ...
5
Duchenne Muscular Dystrophy as a mitochondrial myopathy: Why therapeutically targeting the mitochondria is a plausible treatment avenue
... that mitochondrial pathology forms the basis of DMD aetiology alongside dystrophin-deficiency [20] (Figure 1), such that much like the damage following eccentric muscle injury (Figure 1A), ...
12
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
... the mitochondrial RC disorders result from genetic defects that impair mitochondrial protein syn- thesis, with mutations reported in mitochondrial tRNAs, aminoacyl-tRNA synthetases, elongation ...
11
Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy
... address mitochondrial diseases such as MELAS and suggest to perform a CMR study at initial presentation if local expertise in this technique is available ...
11
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
... common mitochondrial syndromes may or may not include cardiac dysfunction, which can occur at any point in the disease course, and as such screening investigations are recommended for early ...
14
Mitochondrial diseases caused by mtDNA mutations: a mini-review
... cardio- myopathy and encephalopathy, can be in both the protein- coding sites and the RNA-coding portions of ...including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like ...
10
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
... of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical ...domain-containing mitochondrial protein kinase family, in human is associated with liver ...
22
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy
... the mitochondrial and/or nuclear DNA [41, ...of mitochondrial myopathy can be lacking despite presence of a mito- chondrial disease ...of mitochondrial DNA in tissues may demonstrate hetero- ...
12
Clinical Reasoning: A complicated case of MELAS
... adults are genetic diseases, such as Fabry disease, which is associated with a family history of renal impairment and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like ...
8
Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?
... yet the finding was clearly accompanied by a second pathological process (mitochondrial myopathy). Although multiple mtDNA mutations are sometimes seen in inclusion body myositis (a condition that shares ...
9
A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case
... Biopsy specimen was obtained from left deltoid muscle to rule out mitochondrial disorders. Fresh muscle sample was frozen in isopentane cooled in liquid nitrogen. It showed slight fiber-size variation with few ...
7
Dynamic derangement in amino acid profile during and after a stroke like episode in adult onset mitochondrial disease: a case report
... of mitochondrial disease. Mitochondrial DNA in our patient ’ s peripheral blood was positive with a 3243A>G mutation, which is the most frequent cause of maternally inherited diabetes and deafness, and ...
7
Myopathy of slaughter chickens
... Electric conductivity values and pH values were measuring during 60 till 330 minutes post mortem in breast muscles. Aproximately 9 millions chicken was annually slaughtered and 13 thousands of them was confiscated out of ...
8
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
... limb-girdle myopathy. One has a Phe100Val mutation and distal-onset myopathy, unique early bulbar involvement, and a gender-modified wide age-of-onset ...distal-onset myopathy and the first ...
14
Clinical Reasoning: A 40-year-old woman presenting with distal leg weakness
... examination and EMG would be expected to show myo- tonia, which was not seen. sIBM should be considered in a myopathy affecting long finger flexors and knee extension, but typically effects older patients. FSHD could ...
7