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| HAL : hal-00272329, version 1 |
| PubMed : 16786525 |
| DOI : 10.1002/ana.20905 |
| Fiche détaillée |  Récupérer au format |
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| Annals of Neurology 60, 3 (2006) 356-65 |
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| Cold extends electromyography distinction between ion channel mutations causing myotonia. |
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| Emmanuel Fournier 1Karine Viala |
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| (09/2006) |
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| OBJECTIVE: Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle chloride or sodium channel. Myotonia is either relieved or worsened by repeated exercise and can merge into flaccid weakness during exposure to cold, according to causal mutations. We designed an easy electromyography (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of mutations. METHODS: Surface-recorded compound muscle action potential was used to monitor muscle electrical activity. The protocol was applied on 31 unaffected control subjects and on a large population of 54 patients with chloride or sodium channel mutations known to cause the different forms of myotonia. RESULTS: In patients, repeated short exercise test at room temperature disclosed three distinct abnormal patterns of compound muscle action potential changes (I-III), which matched the clinical symptoms. Combining repeated exercise with cold exposure clarified the EMG patterns in a way that enabled a clear correlation between the electrophysiological and genetic defects. INTERPRETATION: We hypothesize that segregation of mutations into the different EMG patterns depended on the underlying pathophysiological mechanisms. Results allow us to suggest EMG guidelines for the molecular diagnosis, which can be used in clinical practice. |
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| 1 : | Fédération de Neurophysiologie Clinique and Centre de Référence des Canalopathies Musculaires |
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Hôpital Pitié-Salpêtrière |
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| 2 : | Physiopathologie et thérapie du muscle strié |
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INSERM : U582 – IFR14 – Université Pierre et Marie Curie [UPMC] - Paris VI |
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| 3 : | Physiologie et physiopathologie de la motricité chez l'homme |
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INSERM : U731 – Université Pierre et Marie Curie [UPMC] - Paris VI – IFR70 |
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| 4 : | Fédération des Pathologies du Sommeil |
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Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Pitié-Salpêtrière |
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| 5 : | Laboratoire des Sciences du Génie Chimique (LSGC) |
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CNRS : UPR6811 |
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| 6 : | Laboratoire de Probabilités et Modèles Aléatoires (LPMA) |
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CNRS : UMR7599 – Université Pierre et Marie Curie [UPMC] - Paris VI – Université Paris VII - Paris Diderot |
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| 7 : | Modélisation aléatoire de Paris X (MODAL'X) |
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Université Paris X - Paris Ouest Nanterre La Défense |
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| 8 : | Enzymes, membranes biologiques et biomimétiques (EMBB) |
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CNRS : UMR5013 – Université Claude Bernard - Lyon I |
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| 9 : | Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS) |
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CNRS : UMR5246 – Université Claude Bernard - Lyon I – Institut National des Sciences Appliquées (INSA) - Lyon – École Supérieure Chimie Physique Électronique de Lyon |
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| 10 : | Firmenich SA |
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Firmenich |
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| 11 : | Centre de Recherches de Climatologie (CRC) |
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CNRS : UMR5210 – Université de Bourgogne |
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| 12 : | Centre d'étude des environnements terrestre et planétaires (CETP) |
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CNRS : UMR8639 – INSU – Université de Versailles Saint-Quentin-en-Yvelines |
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| 13 : | Laboratoire Lasers, Plasmas et Procédés photoniques (LP3) |
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CNRS : UMR6182 – Université de la Méditerranée - Aix-Marseille II |
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| Domaine | : | Sciences du Vivant/Biologie animale/Médecine vétérinaire et santé animal |
| hal-00272329, version 1 | |
| http://hal.archives-ouvertes.fr/hal-00272329 | |
| oai:hal.archives-ouvertes.fr:hal-00272329 | |
| Contributeur : Genevieve Bard | |
| Soumis le : Vendredi 11 Avril 2008, 12:06:38 | |
| Dernière modification le : Vendredi 11 Avril 2008, 12:06:38 | |
