Muscle DiseasesAnthony Henry Vernon Schapira, Robert C. Griggs Muscle disorders have been an important area for scientific advance in both the understanding of molecular genetic mutations as well as the protein defects that underlie primary muscle disease. This book provides an up-to-date review of recent developmentsin the myopathies and encompasses the dystrophies, channelopathies, congenital myopathies, and mitochondrial disorders. The impact that molecular genetics has had on diagnosis is also covered. In addition, some of the more common muscle related problems encountered by the clinician, such as fatigue and toxic and inflammatory myopathies, are addressed. * Chapters written by a renowned set of international contributors |
Contents
Muscle Pain and Fatigue | 33 |
Overview of Clinical | 59 |
Muscular Dystrophies Related to Deficiency | 83 |
Copyright | |
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Common terms and phrases
abnormalities Acad Sci acetylcholine receptor AChR acid activity Ann Neurol antibodies associated atrophy Biochem calcium cardiac carnitine cause cell chloride channel chromosome chronic fatigue syndrome Clin clinical features complex congenital defects deficiency dehydrogenase deletion dermatomyositis diagnosis distal dose Duchenne effects encoded enzyme exercise fibromyalgia FSHD function gene Hum Genet Hum Mol Genet human hyperkalemic periodic paralysis hypokalemic inclusion body myositis increased infection inflammatory myopathy involvement kinase laminin malignant hyperthermia membrane metabolism mitochondrial DNA mitochondrial myopathy molecular mtDNA muscle biopsy muscle fibers Muscle Nerve muscle pain muscle weakness muscular dystrophy myalgia myasthenia gravis myasthenic syndrome myoglobinuria myotonia congenita myotonic dystrophy Nat Genet Neurology Neuromuscul Disord neuromuscular neuropathy normal onset OXPHOS paramyotonia congenita pathogenesis patients Pediatr phenotype point mutation polymyositis potassium prednisone protein proximal reported respiratory sarcoglycan serum CK skeletal muscle sodium channel steroid studies subunit symptoms therapy tissue treatment tRNA usually