MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES
نویسندگان
چکیده
منابع مشابه
Metabolic myopathies.
PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...
متن کاملMyopathies related to diabetes mellitus and other metabolic diseases.
Although it has long been known that both large and small blood vessels are abnormal in the tissues of diabetic patients, recent work has emphasized the widening of capillary basement membranes in diabetic tissues. Current views of the nature of this lesion and its relationship to diabetes are discussed and diabetic muscle and nerve lesions are emphasized. Other metabolic diseases with signifi...
متن کاملmetabolic myopathies
metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...
متن کاملGenetics of Mitochondrial Myopathies
Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Rep...
متن کاملMitochondrial myopathies: developments in treatment.
PURPOSE OF REVIEW Treatment options for mitochondrial myopathies remain limited despite rapid advances in the understanding of the molecular basis of these conditions. Existing therapies continue to be evaluated and novel treatment strategies are starting to appear on the horizon. RECENT FINDINGS Exercise training continues to show promise as a method of improving exercise tolerance and enhan...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2020
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2020.08.319