Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations - Wibrand, Flemming; Jeppesen, Tina D.; Frederiksen, Anja L.; Olsen, David B.; Duno, Morten; Schwartz, Marianne; Vissing, John (Muscle & nerve, 2010)
Keywords: 3243A>G; Adolescent; Adult; Aged; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Diseases of striated muscles. Neuromuscular diseases; Enzymes - analysis; Enzymes - metabolism; Errors of metabolism; Female; Genetic Testing; Humans; Lactic Acid - analysis; Lactic Acid - blood; large-scale deletions; Male; Medical sciences; Metabolic diseases; Middle Aged; Mitochondrial Myopathies - diagnosis; Mitochondrial Myopathies - enzymology; Mitochondrial Myopathies - genetics; mitochondrial myopathy; Muscle Fibers, Skeletal - enzymology; Muscle Fibers, Skeletal - pathology; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Neurology; Oxygen Consumption - physiology; Point Mutation - genetics; Predictive Value of Tests; respiratory chain enzyme analysis; RNA - genetics; RNA, Transfer - genetics; single; single, large‐scale deletions; tRNA gene mutations; Young Adult; Human; Nervous system diseases; Neuromuscular diseases; Oxygen; tRNA gene mutations; Myotonia; Metabolic diseases; 3243A>G; Muscular fiber; Enzymopathy; Congenital disease; Genetic disease; single; Striated muscle disease; Mitochondria; Myotonic dystrophy; Biopsy; large-scale deletions; respiratory chain enzyme analysis; Deletion; Muscle; Mitochondrial myopathy; Mutation; Histochemistry