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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies [PDF]
Arenas, Joaquín +11 more
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Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease [PDF]
Ahmed, Riffat +25 more
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Mitochondrial Encephalomyopathies
Neurologic Clinics, 1990The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation. Therefore, attempts at classification have generated some controversy.
S, DiMauro +5 more
+9 more sources
Mitochondrial Encephalomyopathies
Archives of Neurology, 1993Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes.
S, DiMauro, C T, Moraes
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Mitochondrial encephalomyopathy
2023Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a surprisingly frequent cause of central and peripheral nervous system pathology. Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by
Ng YS, McFarland R
openaire +3 more sources
Mitochondrial Encephalomyopathies
Annals of the New York Academy of Sciences, 2004Abstract: Therapy for mitochondrial diseases is woefully inadequate. How‐ever, lack of cure does not equate with lack of treatment. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocrine dysfunction, and ...
DiMauro S., Mancuso M., Naini A.
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Mitochondrial Encephalomyopathies
Neurologic Clinics, 1988Mitochondrial encephalomyopathies are neurodegenerative disorders characterized by ragged-red myopathy and encephalopathy, which are recognized with increasing frequency. This article presents the clinical features; pertinent historical, biochemical, and genetic aspects; evaluation; and treatment of mitochondrial encephalomyopathies of childhood and ...
P L, Peterson, M E, Martens, C P, Lee
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