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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen, Nina; Shahrzad, Nassim; Chong, Jessica X; von Kleist-Retzow, Jürgen-Christoph; Stanga, Daniela; Li, Yun; Bernier, Francois P; Loucks, Catrina M; Wirth, Radu; Puffenberger, Eric G; Hegele, Robert A; Schreml, Julia; Lapointe, Gabriel; Keupp, Katharina; Brett, Christopher L; Anderson, Rebecca; Hahn, Andreas; Innes, A Micheil; Suchowersky, Oksana; Mets, Marilyn B; Nürnberg, Gudrun; McLeod, D Ross; Thiele, Holger; Waggoner, Darrel; Altmüller, Janine; Boycott, Kym M; Schoser, Benedikt; Nürnberg, Peter; Ober, Carole; Heller, Raoul; Parboosingh, Jillian S; Wollnik, Bernd; Sacher, Michael; Lamont, Ryan E.
Affiliation
  • Bögershausen N; Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
Am J Hum Genet ; 93(1): 181-90, 2013 Jul 11.
Article in En | MEDLINE | ID: mdl-23830518
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Full text: 1 Database: MEDLINE Main subject: Sequence Deletion / Vesicular Transport Proteins / Muscular Dystrophies, Limb-Girdle / Intellectual Disability / Movement Disorders / Muscular Diseases Country/Region as subject: Asia Language: En Year: 2013 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Sequence Deletion / Vesicular Transport Proteins / Muscular Dystrophies, Limb-Girdle / Intellectual Disability / Movement Disorders / Muscular Diseases Country/Region as subject: Asia Language: En Year: 2013 Type: Article