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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... encode fulllength forms of dystrophin, consisting ofuniquefirst exonssplicedto a sharedsetof 78 exons. Fulllength dystrophin is confinedtostriated muscle(cardiac and skeletal) and thecentral nervous system. The transcripts from these ...
... encode fulllength forms of dystrophin, consisting ofuniquefirst exonssplicedto a sharedsetof 78 exons. Fulllength dystrophin is confinedtostriated muscle(cardiac and skeletal) and thecentral nervous system. The transcripts from these ...
Σελίδα
... encoded by the first exon; the remainder are colored gray. The four fulllength isoforms are C = cortical; L = lymphoid; M = muscle and P = Purkinje. The Lisoform was identified in lymphoblastoid cells from a DMD patient but no protein ...
... encoded by the first exon; the remainder are colored gray. The four fulllength isoforms are C = cortical; L = lymphoid; M = muscle and P = Purkinje. The Lisoform was identified in lymphoblastoid cells from a DMD patient but no protein ...
Σελίδα
... encoding for integrin α7 (ITGA7) underlie a very rare form of congenital myopathy which is associated with a relatively mild muscle pathology withoutthe degenerationand regenerationthat is characteristicofmostdystrophies [68].Inmice ...
... encoding for integrin α7 (ITGA7) underlie a very rare form of congenital myopathy which is associated with a relatively mild muscle pathology withoutthe degenerationand regenerationthat is characteristicofmostdystrophies [68].Inmice ...
Σελίδα
... encoding for acetylcholinesterase collagenliketail subunit (COLQ) represent the only examples oftheproteindefect localizingto the synapse. A deficiency ofthis enzyme leads toreducedacetylcholine breakdownand thusan increaseinthe ...
... encoding for acetylcholinesterase collagenliketail subunit (COLQ) represent the only examples oftheproteindefect localizingto the synapse. A deficiency ofthis enzyme leads toreducedacetylcholine breakdownand thusan increaseinthe ...
Σελίδα
... encoding for either an AChR subunit (mainly CHRNE) or RAPSN. Mutations in the genes encoding for the individual AChR subunits can also lead to abnormal functioning of the receptor whichis associated with the slow andfastchannel ...
... encoding for either an AChR subunit (mainly CHRNE) or RAPSN. Mutations in the genes encoding for the individual AChR subunits can also lead to abnormal functioning of the receptor whichis associated with the slow andfastchannel ...
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 | |
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