Journal article
Metabolic Myopathies
Abstract
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the …
Authors
Tarnopolsky MA
Journal
Continuum, Vol. 22, No. 6, Muscle and Neuromuscular Junction Disorders, pp. 1829–1851
Publisher
Wolters Kluwer
Publication Date
12 2016
DOI
10.1212/con.0000000000000403
ISSN
1080-2371