Le groupe des dystrophies myotoniques comporte à ce jour deux affections autosomiques dominantes génétiquement distinctes : la dystrophie myotonique de type 1 (maladie de Steinert ou DM1) et la dystrophie myotonique de type 2 (PROMM ou DM2) identifiée en 1994. Elles ont en commun ...
La Dystrophie Myotonique: Etude Clinique, electromyographique et Histologique de Quatre Cas1.Four cases of dystrophia myotonica are reported, and the clinical features of this disease are described. The great variability of these features is pointed out. The particular mode of inheritance is ...
Les formes néo-natales de la dystrophie myotonique de Steinert. J Neurol Sci. 1974 Jun; 22 (2):149–164. [ PubMed ]Aicardi J, Conti D, Goutieres F. [neonatal forms of Steinert's mytonic dystrophy]. J Neurol Sci 1974;22... J Aicardi,D Conti,F Goutiéres - 《Journal of the Ne...
Hormis l’amyotrophie spinale infantile (SMA) et la dystrophie myotonique de type 1 (DM1), les maladies neuromusculaires congénitales d’expression précoce, peu connues, constituent un défi diagnostique et éthique, notamment en l’absence d’autonomie respiratoire. Objectif Définir une stra...
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General internists should also be implicated, not only in the initial diagnosis step, but also in the diagnosis of complications and their treatments.P KaminskyL Pruna
Angeard-Durand N, He´ron D, Gargiulo M, Eymard B (2004) Dystrophie myotonique de Steinert: approche ge´ne´tique et cog- nitive. Neuropsychiatr Enf 52:175-180Angeard-Durand N, Héron D, Gargiulo M, Eymard B (2004) Dystrophie myotonique de Steinert: approche génétique et ...
P2-081 - Atteintes endocriniennes dans la dystrophie myotonique de steinert : à propos de 10 casdoi:10.1016/S0003-4266(06)72912-211β-hydroxysteroide dehydrogenase (11β-OHSD) enzymes exhibit a regulating action upon cortisol metabolism before access to its receptors. Two types of isoenzymes...
Dystrophie myotonique de Steinert congénitale chez un grand prématuré : questionnements éthiquesThe congenital form of myotonic dystrophy type I (CDM1) corresponds to a>1500 expansion of an unstable trinucleotide (CTG) repeat. Two prognostic factors predict the risk of death in early infancy...