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Lefeuvre C ; Schaeffer S ; Carlier RY ; Fournier M ; Chapon F ; Biancalana V ; Nicolas G ; Malfatti E ; Laforet P | 05/2020Article
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Carrillo N ; Malicdan MC ; Huizing M | 09/04/2020Initial Posting: March 26, 2004; Last Update: April 9, 2020. Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibial[...]Article
Tasca G ; Lattante S ; Marangi G ; Conte A ; Bernardo D ; Bisogni G ; Mandich P ; Zollino M ; Ragozzino E ; Udd B ; Sabatelli M | England | 04/2020Article
Stunnenberg B ; LoRusso S ; Arnold WD ; Barohn RJ ; Cannon SC ; Fontaine B ; Griggs RC ; Hanna MG ; Matthews E ; Meola G ; Sansone VA ; Trivedi JR ; van Engelen B ; Vicart S ; Statland JM | United States | 04/2020Article
Leeuwenberg KE ; van Alfen N ; Christopher Stine L ; Paik JJ ; Tiniakou E ; Mecoli C ; Doorduin J ; Saris CGJ ; Albayda J | United States | 04/2020Article
Segui F ; Gonzalez-Quereda L ; Sanchez A ; Matas-Garcia A ; Garrabou G ; Rodriguez MJ ; Gallano P ; Grau JM ; Milisenda JC | Italy | 04/2020Article
Schoser B | 19/03/2020Initial Posting: September 21, 2006; Last Update: March 19, 2020. Clinical characteristics. Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less[...]Article
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Preston MK ; Tawil R ; Wang LH | 06/02/2020Initial Posting: March 8, 1999; Last Update: February 6, 2020. Clinical characteristics. Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexor[...]Article
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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
Initial Posting: February 17, 2005; Last Update: January 2, 2020. Clinical characteristics. Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels aft[...]Article
Bevilacqua JA ; Guecaimburu Ehuletche MDR ; Perna A ; Dubrovsky A ; Franca MC Jr ; Vargas S ; Hegde M ; Claeys KG ; Straub V ; Daba N ; Faria R ; Periquet M ; Sparks S ; Thibault N ; Araujo R | England | 01/2020Article
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Akesson LS ; Savarirayan R | 2020Clinical characteristics. Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including [...]Article
Macchione F ; Salviati L ; Bordugo A ; Vincenzi M ; Camilot M ; Teofoli F ; Pancheri E ; Zordan R ; Bertolin C ; Rossi S ; Vattemi G ; Tonin P | Germany | 01/2020Article
Villar-Quiles RN ; De la Banda MGG ; Barois A ; Bouchet-Seraphin C ; Romero NB ; Rio M ; Quijano Roy S ; Ferreiro A | Netherlands | 2020Article
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Oudeman J ; Eftimov F ; Strijkers GJ ; Schneiders JJ ; Roosendaal SD ; Engbersen MP ; Froeling M ; Goedee HS ; van Doorn PA ; Caan MWA ; van Schaik IN ; Maas M ; Nederveen AJ ; de Visser M ; Verhamme C | United States | 01/2020Article
Dieudonne Y ; Allenbach Y ; Benveniste O ; Leonard-Louis S ; Hervier B ; Mariampillai K ; Nespola B ; Lannes B ; Echaniz-Laguna A ; Wendling D ; Von Frenckell C ; Poursac N ; Mortier E ; Lavigne C ; Hinschberger O ; Magnant J ; Gottenberg JE ; Geny B ; Sibilia J ; Meyer A | United States | 2020