Titre :
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Congenital muscular dystrophies
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Partie :
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Chap 3
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Auteurs :
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Fardeau M, Auteur ;
Tomé FMS ;
Helbling-Leclerc A ;
Evangelista T ;
Manole E ;
Ottolini A ;
Chevallay M ;
Fauré S ;
Hillaire D
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Type de document :
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Article
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Année de publication :
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1997
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Pages :
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p 23
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Note générale :
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Neuromuscular diseases during development, Eds. F. Cornelio, G. Lanzi & E. Fedrizzi
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Langues:
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Anglais
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Résumé :
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Congenital muscular dystrophies (CMD) comprise a highly complex, heterogeneous group of disorders. The description by Fukuyama of a peculiar form frequent in Japan (FCMD) emphasized the importance of CNS involvement in these disorders. Other forms are associated with severe mental and sensory involvement (muscle-eye-brain disease) described in Finland or with the Walker-Warburg syndrome. Brain imaging techniques allowed recognition of the frequency of infraclinical brain abnormalities in occidental, 'classical' CMD…
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