المؤلفون: Henning Andersen, David Gaist, Henrik Daa Schrøder, Jens Mogensen, Jens Michael Hertz, John Vissing, Emil Greve Pedersen

المصدر: Gaist, D, Mogensen, J, Pedersen, E G, Schroder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test
Gaist, D, Mogensen, J, Pedersen, E G, Schrøder, H D, Vissing, J, Andersen, H & Hertz, J M 2017, ' DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency ', Journal of the Neurological Sciences, vol. 379, pp. 217-218 . https://doi.org/10.1016/j.jns.2017.06.005Test

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, PROLAPSE, DOK7 congenital myasthenia, Congenital myasthenia, Cardiac disease, 03 medical and health sciences, Mitral Valve Insufficiency/complications, 0302 clinical medicine, Mitral valve, Internal medicine, Myasthenic Syndromes, Congenital/complications, medicine, Humans, Muscle Proteins/genetics, MUTATIONS, business.industry, Genetic Predisposition to Disease/genetics, Siblings, Middle Aged, 030104 developmental biology, medicine.anatomical_structure, Mitral valve disease, Neurology, Mutation, Mutation (genetic algorithm), Cardiology, Female, Neurology (clinical), business, Neuromuscular disorders, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c89644139cf3a987757e97a6efda17cTest
https://doi.org/10.1016/j.jns.2017.06.005Test

المؤلفون: Jacques S. Beckmann, Melissa J. Spencer

المصدر: Neuromuscular Disorders, vol. 18, no. 12, pp. 913-921

مصطلحات موضوعية: Sarcomeres, Gene isoform, Muscle Proteins, Models, Biological, Sarcomere, Article, medicine, Animals, Humans, Calpain/genetics, Calpain/metabolism, Muscle Proteins/genetics, Muscle Proteins/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Muscular Dystrophies, Limb-Girdle/metabolism, Mutation, Sarcomeres/metabolism, Muscular dystrophy, Genetics (clinical), Loss function, Genetics, biology, Calpain, Dystrophy, medicine.disease, Cell biology, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d38571d4127b7b2f9c161021bded730Test
https://doi.org/10.1016/j.nmd.2008.08.005Test