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مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44k6m8qw

المؤلفون: Ranu, Natasha, Laitila, Jenni^{Aff2, Aff3}, Dugdale, Hannah F.^{Aff1, Aff4}, Mariano, Jennifer, Kolb, Justin S., Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus^{Aff8, Aff9}, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu^{Aff13, Aff14, Aff20}, Tasca, Giorgio^{Aff15, Aff16}, Claeys, Kristl G.^{Aff17, Aff18}, Voermans, Nicol C., Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, Ochala, Julien^{Aff2, IDs40478022014919_cor23}

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