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Update Review about Metabolic Myopathies

Messerli Institute, Krankenanstalt Rudolfstiftung, 1180 Vienna, Austria
Life 2020, 10(4), 43; https://doi.org/10.3390/life10040043
Received: 31 March 2020 / Revised: 15 April 2020 / Accepted: 15 April 2020 / Published: 17 April 2020
(This article belongs to the Section Genetics and Genomics Research)
The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during exercise. Though limb and respiratory muscles are most frequently affected, facial, extra-ocular, and axial muscles may be occasionally also involved. Age at onset and prognosis vary considerably. There are multiple disease mechanisms and the pathophysiology is complex. Genes most recently related to metabolic myopathy include PGM1, GYG1, RBCK1, VMA21, MTO1, KARS, and ISCA2. The number of metabolic myopathies is steadily increasing. There is limited evidence from the literature that could guide diagnosis and treatment of metabolic myopathies. Treatment is limited to mainly non-invasive or invasive symptomatic measures. In conclusion, the field of metabolic myopathies is evolving with the more widespread availability and application of next generation sequencing technologies worldwide. This will broaden the knowledge about pathophysiology and putative therapeutic strategies for this group of neuromuscular disorders. View Full-Text
Keywords: metabolism; myopathy; neuromuscular; genetics; mitochondrial deoxy-nucleic acid (mtDNA); fat metabolism; mitochondrial metabolism; myopathy; neuromuscular; genetics; mitochondrial deoxy-nucleic acid (mtDNA); fat metabolism; mitochondrial
MDPI and ACS Style

Finsterer, J. Update Review about Metabolic Myopathies. Life 2020, 10, 43.

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