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complication de la maladieSynonyme(s)maladie compliquée ;complicated disease disease complications |
Documents disponibles dans cette catégorie (884)
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Initial Posting: September 5, 2000; Last Revision: January 20, 2022. Clinical characteristics. The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker[...]Article
Yoshioka W ; Shimizu R ; Takahashi Y ; Oda Y ; Yoshida S ; Ishihara N ; Nishino I ; Nakamura H ; Mori Yoshimura M | Netherlands | 01/2022Article
Abicht A ; Müller J ; Lochmuller H | 23/12/2021Initial Posting: May 9, 2003; Last Update: December 23, 2021. The purpose of this overview is to increase the awareness of clinicians regarding congenital myasthenic syndromes (CMS) and their genetic causes and management. The following ar[...]Article
Lanot N ; Vincenti M ; Abassi H ; Bredy C ; Agullo A ; Gamon L ; Mura T ; Lavastre K ; De La Villeon G ; Barrea C ; Meyer P ; Rivier F ; Meli AC ; Fauconnier J ; Cazorla O ; Lacampagne A ; Amedro P | United States | 14/12/2021Article
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Last Update: July 8, 2021. (previous version July 8, 2021)Article
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Last Update: July 7, 2021. [Previous update: February 13, 2021]Article
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Kichula EA ; Proud CM ; Farrar MA ; Kwon JM ; Saito K ; Desguerre I ; McMillan HJ | United States | 30/06/2021Article
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Spiritovic M ; Hermankova B ; Oreska S ; Storkanova H ; Ruzickova O ; Vernerova L ; Klein M ; Kubinova K ; Smucrova H ; Rathouska A ; Cesak P ; Komarc M ; Bunc V ; Pavelka K ; Senolt L ; Mann H ; Vencovsky J ; Tomcik M | 21/06/2021Article
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Dermatomyositis is a rare acquired immune-mediated muscle disease characterized by muscle weakness and skin rash. It is classified as one of the idiopathic inflammatory myopathies (IIM). Although all idiopathic inflammatory myopathies share the [...]Article
Rietveld A ; van Gaalen J ; Saris C ; Okkersen K ; Kusters B ; van de Warrenburg B ; van Engelen B ; Sacconi S ; Raaphorst J | England | 06/2020Article
Rodolico C ; Politano L ; Portaro S ; Murru S ; Boccone L ; Sera F ; Passamano L ; Brizzi T ; Tupler R | England | 05/2020Article
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Chung MP ; Richardson C ; Kirakossian D ; Orandi AB ; Saketkoo LA ; Rider LG ; Schiffenbauer A ; von Muhlen CA ; Chung L | Netherlands | 03/2020Article
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Wittlieb Weber CA ; Knecht KR ; Villa CR ; Cunningham C ; Conway J ; Bock MJ ; Gambetta KE ; Lal AK ; Schumacher KR ; Law SP ; Deshpande SR ; West SC ; Friedland Little JM ; Lytrivi ID ; McCulloch MA ; Butts RJ ; Weber DR ; Johnson JN | United States | 02/2020Article
Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R | 16/01/2020Initial Posting: December 19, 2003; Last Update: January 16, 2020. Clinical characteristics. Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeleta[...]Article
Gutierrez Ruiz C ; Mateu Arrom L ; Mayordomo O ; Martinez Barea V ; Palou Redorta J ; Errando Smet C | Spain | 2020Article
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Rudnik Schoneborn S ; Thiele S ; Walter MC ; Reinecke L ; Sereda M ; Schoneborn R ; Elbracht M | England | 2020Article
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Giannini M ; Grignaschi S ; Fornaro M ; Caporali R ; Locatelli F ; Zanframundo G ; Meyer A ; Montecucco C ; Iannone F ; Paolino S ; Cavagna L | Italy | 12/2019Article
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La manifestation clinique la plus fréquente des laminopathies (liées à une mutation dans le gène LMNA) est la cardiomyopathie dilatée arythmogène avec risque de mort subite (MS) par survenue de tachyarythmie ventriculaire (TAV). Le traitement pr[...]Article
Nery FC, Auteur ; Siranosian JJ ; Rosales I ; Deguise MO ; Sharma A ; Muhtaseb AW ; Nwe P ; Johnstone AJ ; Zhang R ; Fatouraei M ; Huemer N ; Alves CRR ; Kothary R ; Swoboda KJ | United States | 08/2019Article
Hackman P ; Savarese M ; Carmignac V ; Udd B ; Salih MA | 11/04/2019Initial Posting: January 12, 2012; Last Update: April 11, 2019. Clinical characteristics. Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children ac[...]Article
Herbert M ; Goldstein JL ; Rehder C ; Austin S ; Kishnani PS ; Bali DS | 01/11/2018Initial Posting: May 31, 2011; Last Update: November 1, 2018. Clinical characteristics. Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, whi[...]Article
Veerapandiyan A ; Statland JM ; Tawil R | 07/06/2018Initial Posting: November 22, 2004; Last Update: June 7, 2018. Clinical characteristics. Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and p[...]VLM
Dupuy-Maury F, Auteur | 06/2018Evaluer la sévérité de la dystrophie myotonique de Steinert pour adopter la meilleure prise en charge, c'est la promesse de l'outil développé pour les médecins par Karim Wahbi et d'autres cardiologues français.