Congenital muscular dystrophies
著者
書誌事項
Congenital muscular dystrophies
（Developments in neurology, 13）
Elsevier, 1997
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
Edited by Yukio Fukuyama, a researcher in in congenital muscular dystrophy, this volume aims to bring fresh impetus to new areas and areas of research in congenital muscular dystrophy which seem to have been neglected since the 1940s. The recognition and delineation of Fukuyama type congenital muscular dystrophy (FCMD) as a distinct clinico-genetic entity, dating back to 1960, brought about a revolutionary turn in the approach to CMD research. Knowledge of FCMD was gradually disseminated from Japan to the rest of the world, triggering great interest, and thereby facilitating a comparative study of experiences between different institutions worldwide, which led to the re-evaluation of previously overlooked related syndromes. Thus, recent progress in CMD research has been rapid and the pace continues to accelerate. This progress raises challenges for anyone attempting to closely follow the breakthroughs which are taking place daily in various corners of the world. To promote further progress in this research, however, acquisition of up-to-date information is necessary.
目次
1. Nosological establishment of congenital muscular dystrophies in the history of medicine. 2. Exciting new developments in congenital muscular dystrophy. 3. Fukuyama type congenital progressive muscular dystrophy. 4. Classical (occidental) congenital muscular dystrophy: clinical and pathologic reevaluation. 5. Clinical and immunocytochemical evidence of heterogeneity in classical (occidental) congenital muscular dystrophy. 6. Walker Warburg and other cobblestone lissencephaly syndromes: 1995 update. 7. Muscle-eye-brain (MEB) disease a review. 8. The clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. 9. Characteristics of muscle involvement evaluated by computerized tomography scanning in early stages of progressive muscular dystrophy: comparison between Duchenne and Fukuyama types. 10. Longitudinal evaluation of leukoencephalopathy in congenital muscular dystrophy: data on a heterogeneous series of Western cases. 11. Congenital muscular dystrophy: clinical variability in Sicilian patients. 12. Merosin and clinical characteristics of congenital muscular dystrophy in an unselected group of Turkish patients. 13. Rehabilitation of children with Fukuyama congenital muscular dystrophy. 14. Congenital muscular dystrophies: myo- and neuropathological studies. 15. Brain pathology in Fukuyama type congenital muscular dystrophy with special reference to the cortical dysplasia and the occurrence of neurofibrillary tangles. 16. Cytoarchitectonic alterations of the cerebral cortex in Fukuyama-type congenital muscular dystrophy and other cortical dysplasia syndrome. 17. Neuronal and vascular involvement in Fukuyama type congenital muscular dystrophy. 18. Ultrastructural alterations of the muscle plasma membrane and related structures in Fukuyama muscular dystrophy: comparative study with other types of muscular dystrophies. 19. Walker Warburg syndrome in Japan: a comparative study with Fukuyama type congenital muscular dystrophy. 20. Membrane abnormality in Fukuyama congenital muscular dystrophy. 21. Laminin a2 (or M) chain abnormality in congenital muscular dystrophy. 22. Peripheral nerve dystroglycan: its function and potential role in the molecular pathogenesis of neuromuscular diseases. 23. Distribution and organization of utrophin and the laminin a2 chain in normal and dystrophic skeletal muscle fibers. 24. Laminin in animal models for muscular dystrophy: deficiency of the laminin a2 chain in the homozygous dystrophic dy/dy mouse. 25. Toward identification of the Fukuyama type congenital muscular dystrophy gene. 26. Reconfirmation of the Fukuyama congenital muscular dystrophy (FCMD) gene locus at chromosome 9q31, and a successful prenatal diagnosis of FCMD in two families. 27. Tubular aggregates myopathy. 28. Cerebral cortical gyration abnormality and denervation muscular atrophy: a case report. 29. Congenital muscular dystrophy and brain malformation in two sibs: a pathological and neuroradiological comparison. 30.
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