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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 biomarkers
Mitochondrial myopathies comprise a heterogeneous group of disorders arising from structural or functional mitochondrial impairments that disrupt oxidative phosphorylation and cellular ATP production. The resulting energy deficit manifests not only in muscle but frequently leads to multi-systemic disease involving the brain, heart, kidneys, and ...Marco, Refrigeri +5 more
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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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Mitochondrial myopathies and myoencephalopathies
Current Opinion in Rheumatology, 1990openaire +2 more sources