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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 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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2023
Abstract This chapter explores how mitochondrial disorders underlie a spectrum of diseases. Mitochondria are involved in cellular energy production and the synthesis of essential molecules for cellular function as well as apoptosis and cell death.
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Abstract This chapter explores how mitochondrial disorders underlie a spectrum of diseases. Mitochondria are involved in cellular energy production and the synthesis of essential molecules for cellular function as well as apoptosis and cell death.
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Rivista di neurologia, 1988
Mitochondrial myopathies are characterized by structural and functional abnormalities of the mitochondria. The diseases are best classified according to the underlying biochemical defect. In this article the variability of clinical expression and mitochondrial abnormalities is illustrated. An exact diagnosis is a prerequisite for a rational therapy and
G, Scarlato, S, Barbieri
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Mitochondrial myopathies are characterized by structural and functional abnormalities of the mitochondria. The diseases are best classified according to the underlying biochemical defect. In this article the variability of clinical expression and mitochondrial abnormalities is illustrated. An exact diagnosis is a prerequisite for a rational therapy and
G, Scarlato, S, Barbieri
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More on Mitochondrial Myopathies
Anesthesia & Analgesia, 2016Veyckemans, Francis +2 more
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