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Mitochondrial DNA polymorphism in mitochondrial myopathy
Human Genetics, 1988In order to test the hypothesis that mitochondrial myopathy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leucocyte mt DNA has been studied in 38 patients with mitochondrial myopathy, 44 of their unaffected matrilineal relatives, and 35 normal control subjects.
I J, Holt +2 more
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Familial Mitochondrial Myopathies
1981Mitochondrial myoencephalopathies might be defined as diseases with mitochondrial alterations in skeletal muscle and brain, often combined with mitochondrial alterations in other organs. Examples are Reye’s syndrome (8, 9) kinky hair syndrome (3, 4) and Zellweger’s syndrome (5, 6).
G F, Walter, S, Tassin, J M, Brucher
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Mitochondrial and Metabolic Myopathies
Continuum, 2019This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy.
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Updates on Mitochondrial Myopathies
Current Neurology and Neuroscience ReportsMitochondrial myopathies (MM) are a genetically and clinically heterogeneous group of disorders that remain underrecognized in adult and pediatric neurology. This review aims to provide a clinically useful tool for guiding diagnosis and management of MM.
Emanuele, Barca, Valentina, Emmanuele
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Metabolic and mitochondrial myopathies
Current Opinion in Rheumatology, 1989Metabolic myopathies are the result of genetic defects that cause disordered energy metabolism. These diseases can cause a variety of myopathic syndromes and can become clinically manifest at any age. Recent advances in the understanding of the molecular and metabolic bases for these diseases have resulted in expanded clinical descriptions, recognition
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MITOCHONDRIAL MYOPATHY DIAGNOSIS
Neurologic Clinics, 2000Oxidative phosphorylation (OXPHOS) accounts for approximately 95% of the adenosine triphosphate (ATP) produced by the cell. The central nervous system, peripheral nervous system, cardiac muscle, skeletal muscle, and smooth muscle are highly susceptible to dysfunction of this complex enzyme system. Although most OXPHOS diseases are multisystem disorders,
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More on Mitochondrial Myopathies
Anesthesia & Analgesia, 2016Veyckemans, Francis +2 more
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