Titlebook: Diagnosis and Management of Mitochondrial Disorders; Michelangelo Mancuso,Thomas Klopstock Book 2019 Springer Nature Switzerland AG 2019 M

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Mitochondrial Optic Neuropathies,o this metabolic insult. Typically mitochondrial optic neuropathies follow a common pattern, with small axons being more prone to degenerate due to their unfavorable metabolic setting. This leads to loss of papillomacular fibers characterized by central vision defect and prevalent temporal pallor at

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Mitochondrial Myopathies, Chronic Progressive External Ophthalmoparesis, and Kearns-Sayre Syndrome,ting predominantly, but not exclusively, skeletal muscle. Manifestations lead from isolated mitochondrial myopathy to chronic progressive external ophthalmoparesis and Kearns-Sayre syndrome. In contrast to many other mitochondrial disorders, diagnosis still requires the morphological and genetic wor

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Mitochondrial Depletion Syndromes,r cause of these clinically very heterogeneous diseases is autosomal recessive mutations in at least 15 nuclear genes involved in nuclear-mitochondrial inter-genomic signaling pathways. The phenotypes for these disorders can be quite varied from isolated ophthalmoplegia to multi-system disease. Almo

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Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE), cytosolic enzyme thymidine phosphorylase (TP). MNGIE is clinically characterized by severe gastrointestinal dysmotility, cachexia, chronic progressive external ophthalmoplegia, sensorimotor peripheral neuropathy, and leukoencephalopathy. The average age at onset is about 18?years old, and the disea

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Mitochondrial Heart Involvement,muscle, and other internal organs. Heart failure (HF) does not only represent one of the major causes of morbidity and mortality in these patients, but the presence of cardiomyopathy also worsens dramatically their prognosis. An early diagnosis of cardiac disease associated with MID is important for