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Muscle & Nerve, ISSN 0148-639X, 07/2014, Volume 50, Issue 1, pp. 119 - 123
Journal Article
CELLS, ISSN 2073-4409, 03/2019, Volume 8, Issue 3, p. 237
Mitochondrial DNA (mtDNA) replication is thought to be an integral part of exercise-training-induced mitochondrial adaptations. Thus, mtDNA level is often used... 
CAPACITY | mtDNA | mitochondria | WEIGHT-LOSS | INCREASES | mitochondrial biogenesis | DEFICIENCY | OXYGEN-UPTAKE | CELL BIOLOGY | BIOGENESIS | GENE | METABOLISM | ENZYMES | exercise training | PHYSICAL-ACTIVITY | skeletal muscle
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2019, Volume 266, Issue 5, pp. 1127 - 1135
Unlike most muscular dystrophies that progress symmetrically at a constant rate, facioscapulohumeral muscular dystrophy (FSHD) is characterized by stepwise,... 
Facioscapulohumeral muscular dystrophy | Neurology | Neurosciences | Medicine & Public Health | MRI | FSHD | STIR | Dixon | Neuroradiology | CLINICAL NEUROLOGY | Edema | Magnetic resonance imaging | Inflammation | Desserts | Dystrophy | Growth industries | Muscular dystrophy
Journal Article
JIMD Reports, ISSN 2192-8304, 2016, Volume 25, pp. 65 - 70
The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy. We... 
Maternal aunt | Mitochondrial myopathy | Myopathic change | Muscle biopsy | Rigid spine
Journal Article
Endocrine Connections, ISSN 2049-3614, 08/2017, Volume 6, Issue 6, pp. 384 - 394
Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen... 
Pompe disease | Exercise | Glycogenosis | Glycogen | Skeletal muscle metabolism | ENDURANCE | PERFORMANCE | skeletal muscle metabolism | exercise | ALPHA | glycogen | DEFICIENCY | MCARDLE-DISEASE | GLUCOSE | ENDOCRINOLOGY & METABOLISM | FAT | glycogenosis | CARBOHYDRATE-METABOLISM | PROGRAM | Life Sciences | Human health and pathology | Endocrinology and metabolism
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2017, Volume 122, Issue 3, pp. 117 - 121
We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle... 
Second wind | Glycogen storage disease | Exercise | Metabolic myopathy | Phosphoglucomutase type 1 | Skeletal muscle metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | GALACTOSE | PHENOTYPE | MCARDLES-DISEASE | METABOLISM | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Muscles | Physiological aspects | Glucose | Glycogen | Analysis | Dextrose
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 05/2013, Volume 80, Issue 20, pp. 1908 - 1910
Mitochondrial myopathies commonly present with exercise intolerance typified by breathlessness and fatigue on exercise. In contrast, exercise-induced... 
OXIDASE SUBUNIT-II | MYOPATHY | MITOCHONDRIAL-DNA | CLINICAL NEUROLOGY | Recurrence | DNA, Mitochondrial - genetics | Humans | Adult | Male | Carnitine - analogs & derivatives | Electron Transport Complex IV - genetics | Mutation - genetics | Myoglobinuria - diagnosis | Carnitine - genetics | Myoglobinuria - genetics
Journal Article
Mitochondrion, ISSN 1567-7249, 05/2019, Volume 46, pp. 221 - 227
The primary disease mechanism underlying mitochondrial myopathies (MM) is impaired energy generation to support muscle endurance. Little is known about muscle... 
LOAD | INVOLVEMENT | MUTATION | GENETICS & HEREDITY | DISORDERS | CROSS-SECTIONAL AREA | CELL BIOLOGY | Creatine | Creatine kinase
Journal Article
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