Disorders of Voluntary MuscleCambridge University Press, 21 Ιαν 2010 - 1069 σελίδες This major new edition fulfils the need for a single-volume, up-to-date information resource on the etiology, pathogenesis, diagnosis and treatment of diseases of skeletal muscles, including the muscular dystrophies, mitochondrial myopathies, metabolic myopathies, ion channel disorders, and dysimmune myopathies. As background to the clinical coverage, relevant information on advances in molecular and developmental biology, immunopathology, mitochondrial biology, ion-channel dynamics, cell membrane and signal transduction science, and imaging technology is summarized. Combining essential new knowledge with the fundamentals of history-taking and clinical examination, this extensively illustrated book will continue to be the mainstay for practising physicians and biomedical scientists concerned with muscle disease. Regular updates on the clinical and basic science aspects of muscle disease - written mainly by rising stars of myology - will be published on an accompanying website. |
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... recessive muscular dystrophies. To date mutationsinsixgenes havebeen implicatedinthis groupof disorders,namelyProtein Omannosyl transferase 1(POMT1; OMIM 607423), ProteinOmannosyl transferase2(POMT2; OMIM 607439), Protein Omannose beta1 ...
... recessive muscular dystrophies. To date mutationsinsixgenes havebeen implicatedinthis groupof disorders,namelyProtein Omannosyl transferase 1(POMT1; OMIM 607423), ProteinOmannosyl transferase2(POMT2; OMIM 607439), Protein Omannose beta1 ...
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... Recessive mutations in DOK7 have been shown to underlie a form of CMS with a highly variable clinical phenotype [78]. However, most of the patients displaya characteristic “limbgirdle” pattern ofweaknesswith awaddlinggait and ptosis ...
... Recessive mutations in DOK7 have been shown to underlie a form of CMS with a highly variable clinical phenotype [78]. However, most of the patients displaya characteristic “limbgirdle” pattern ofweaknesswith awaddlinggait and ptosis ...
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... recessive mutations in Becker is now lessclear and a particular mutation can be inherited in either a dominant or recessive pattern [151]. This is complicated by the observation ofvariation of phenotypes/severities between patients with ...
... recessive mutations in Becker is now lessclear and a particular mutation can be inherited in either a dominant or recessive pattern [151]. This is complicated by the observation ofvariation of phenotypes/severities between patients with ...
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... recessive mutations,causingat least three distinct human myopathies,namely tibial muscular dystrophy,childhoodonset limb girdlemuscular dystrophy 2J,andan autosomal recessive cardiac and skeletal titin myopathy. Additional evidence ...
... recessive mutations,causingat least three distinct human myopathies,namely tibial muscular dystrophy,childhoodonset limb girdlemuscular dystrophy 2J,andan autosomal recessive cardiac and skeletal titin myopathy. Additional evidence ...
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Περιεχόμενα
Dystrophic myopathies of early childhood onset | |
Investigation of muscle disease 4 Electrophysiological evaluation of suspected myopathy | |
Eugenio MercuriandMarianne deVisser Section 3A Descriptionofmuscledisease general aspects 8 The clinical assessmentanda guide to classification o... | |
The congenitalmyopathies Carina WallgrenPettersson and NigelG Laing 14 Muscle diseases with prominent muscle contractures | |
Defects ofcarbohydrate andlipid | |
Muscular dystrophies presenting with proximal muscle | |
Muscle ionchannelopathies and related disorders | |
Other myopathies Giovanni Meolaand Michael Swash | |
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Συχνά εμφανιζόμενοι όροι και φράσεις
abnormalities actin activity andthe antibodies associated associatedwith atrophy autosomal dominant Biol Brain canbe cardiac cardiomyopathy caused caveolin3 chromosome clinical CMAP collagen complex congenital muscular dystrophy congenital myopathies contractures defects deficiency dehydrogenase deletions denervation dermatomyositis diagnosis disorders distal myopathy Duchenne muscular dystrophy dysferlin dystroglycan encoding enzyme etal exon expression facioscapulohumeral facioscapulohumeral muscular dystrophy Figure filaments FSHD function gene Genet glycogen glycosylation identified inclusion body myositis inflammatory myopathies involvement isoforms Karpati lamina LGMD LGMD2I limbgirdle muscular dystrophy membrane metabolic mice missense mitochondrial molecular motor unit mtDNA muscle biopsy muscle disease muscle fibers Muscle Nerve muscle weakness musclefibers mutationsin myoblasts myofiber myofibrillar myosin myotilin myotonia myotonic dystrophy nemaline myopathy Neurol Neurology neuromuscular normal nuclear nuclei ofmuscle ofthe onset pathology patients patientswith phenotype protein receptor recessive regeneration respiratory RYR1 sarcoglycan sarcolemma sarcomere satellite cells skeletal muscle staining syndrome therapy tissue utrophin vacuoles Xlinked