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Bjelica B, Auteur ; Peric S ; Basta I ; Bozovic I ; Kacar A ; Marjanovic A ; Ivanovic V ; Brankovic M ; Jankovic M ; Novakovic I ; Rakocevic Stojanovic V | Italy | 11/2019Article
Annals of neurology POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing J, Auteur ; Johnson K ; Topf A ; Nafissi S ; Diaz-Manera J ; French VM ; Schindler RF ; Sarathchandra P ; Lokken N ; Rinne S ; Freund M ; Decher N ; Müller T ; Duno M ; Krag T ; Brand T ; Straub V | United States | 10/2019Article
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Pinal Fernandez I, Auteur ; Mecoli CA ; Casal-Dominguez M ; Pak K ; Hosono Y ; Huapaya J ; Huang W ; Albayda J ; Tiniakou E ; Paik JJ ; Johnson C ; Danoff SK ; Corse AM ; Christopher Stine L ; Mammen AL | United States | 10/2019Article
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Kimonis V | 12/09/2019Initial Posting: May 25, 2007; Last Update: September 12, 2019. Clinical characteristics. Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal [...]Article
Peric S ; Stevanovic J ; Johnson K ; Kosac A ; Peric M ; Brankovic M ; Marjanovic A ; Jankovic M ; Banko B ; Milenkovic S ; Durdic M ; Bozovic I ; Glumac JN ; Lavrnic D ; Maksimovic R ; Milic-Rasic V ; Rakocevic-Stojanovic V | Italy | 09/2019Article
Ngiwsara L, Auteur ; Wattanasirichaigoon D ; Tim-Aroon T ; Rojnueangnit K ; Noojaroen S ; Khongkraparn A ; Sawangareetrakul P ; Ketudat-Cairns JR ; Charoenwattanasatien R ; Champattanachai V ; Kuptanon C ; Pangkanon S ; Svasti J | England | 09/2019Article
Cocanougher BT, Auteur ; Flynn L ; Yun P ; Jain M ; Waite M ; Vasavada R ; Wittenbach JD ; de Chastonay S ; Chhibber S ; Innes AM ; MacLaren L ; Mozaffar T ; Arai AE ; Donkervoort S ; Bonnemann CG ; Foley AR | United States | 09/2019Article
Betteridge Z, Auteur ; Chinoy H ; Vencovsky J ; Winer J ; Putchakayala K ; Ho P ; Lundberg I ; Danko K ; Cooper R ; McHugh N | England | 09/2019Article
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Penttila S ; Vihola A ; Palmio J ; Udd B | 22/08/2019Initial Posting: November 29, 2012; Last Update: August 22, 2019. Clinical characteristics. The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal m[...]Article
Bonne G ; Leturcq F ; Ben Yaou R | 15/08/2019Initial Posting: September 29, 2004; Last Update: August 15, 2019. Clinical characteristics. Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progr[...]Article
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Magoulas PL ; El-Hattab AW | 01/08/2019Initial Posting: January 3, 2013; Last Update: August 1, 2019. Clinical characteristics. The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ag[...]Article
Saito K | 03/07/2019Initial Posting: January 26, 2006; Last Update: July 3, 2019. Clinical characteristics. Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that[...]Article
Initial Posting: June 20, 2019. Clinical characteristics. STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected ind[...]Article
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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
Erratum in : Corrigendum to "Recently Identified Congenital Myopathies" [Semin Pediatr Neurol 29 (2019) 83-90].Article
Lagrue E ; Dogan C ; De Antonio M ; Audic F ; Bach N ; Barnerias C ; Bellance R ; Cances C ; Chabrol B ; Cuisset JM ; Desguerre I ; Durigneux J ; Espil C ; Fradin M ; Heron D ; Isapof A ; Jacquin-Piques A ; Journel H ; Laroche-Raynaud C ; Laugel V ; Magot A ; Manel V ; Mayer M ; Pereon Y ; Perrier-Boeswillald J ; Peudenier S ; Quijano Roy S ; Ragot-Mandry S ; Richelme C ; Rivier F ; Sabouraud P ; Sarret C ; Testard H ; Vanhulle C ; Walther Louvier U ; Gherardi R ; Hamroun D ; Bassez G | 19/02/2019Article
Wieser T | 03/01/2019Initial Posting: August 27, 2004; Last Revision: January 3, 2019. Clinical characteristics. Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal n[...]