Résumé :
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The varied clinical appearance of congenital muscular dystrophy (CMD) has led to the distinction into subtypes of this heterogeneous disease [1-4]. Presently [5], the following clinical phenotypes can be defined: the Fukuyama type, with severe and progressive muscle deficit and clear-cut brain involvement [6]; the muscle-eye-brain disease (MEBd) [7] and the Walker-Warburg syndrome (WWS) [8], in which there is also clinical evidence of ocular involvement; the classical CMD (Cl-CMD), essentially characterized by muscular symptoms. In Cl-CMD, however, as was found in our previous investigations [9,10], there is frequent CNS involvement of a subclinical significance, mainly represented by white malter changes. These alterations, as discussed by Fardeau et al. in this book, characterize the subtype of CI-CMD with merosin deficiency, recently identified by Tomé et al. [11].
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