المؤلفون: Andrew J. Kornberg, Nigel F. Clarke, Paul Kennedy, Leigh B. Waddell, Nicole Monnier, Michaela Kreissl, Kathryn N. North, Annick Labarre-Vila, Catriona McLean

المساهمون: Institute for Neuroscience and Muscle Research, Westmead Hospital [Sydney], Discipline of Paediatrics and Child Health, The University of Sydney, Department of Neurology, Royal Children's Hospital, State Neuropathology Service, Department of Pathology, University of Melbourne, Department of Anatomical Pathology, The Alfred Hospital, Centre de Reference des Maladies Neuromusculaires, CHU Grenoble, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de biochimie et génétique moléculaire, This work has been supported by the NHMRC, Australia (N.C. - Grant 206529 and 571287, L.W. - Grant 505004 and K.N. - Grant 403941) and the MDA of New South Wales (N.C., K.N.)., Roux-Buisson, Nathalie

المصدر: Neuromuscul Disord
Neuromuscul Disord, 2010, 20 (7), pp.464-6. ⟨10.1016/j.nmd.2010.05.012⟩

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, MESH: Mutation, Adolescent, Dominant negative, MESH: Tropomyosin, Tropomyosin, Disease, Biology, Arginine, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Cap myopathy, Mutant protein, Dominant negative disease, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cysteine, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, MESH: Adolescent, MESH: Muscle, Skeletal, 0303 health sciences, MESH: Humans, Mechanism (biology), MESH: Child, Preschool, MESH: Arginine, MESH: Muscular Diseases, MESH: Cysteine, MESH: Male, 3. Good health, Congenital fibre-type disproportion, TPM3, Neurology, Child, Preschool, Causal association, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058e57b4ee8d73764976bfeff8580eb2
https://doi.org/10.1016/j.nmd.2010.05.012