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Journal Article
Journal Article
Acta neuropathologica, ISSN 1432-0533, 11/2014, Volume 129, Issue 2, pp. 297 - 315
Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive and sporadic forms of protein aggregation myopathies and... 
Protein aggregation cardiomyopathy | Cardiac arrhythmia | Neurosciences | R350P desmin missense mutation | Mutant desmin | Intermediate filament | Skeletal muscle weakness | Cardiac conduction defect | Pathology | Desmin knock-in mouse | Protein aggregation myopathy | Mechanical vulnerability | Desminopathy | Medicine & Public Health | Mouse model | Extrasarcomeric intermediate filament network | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cardiomyopathy, Dilated - pathology | Escherichia coli | Humans | Mutation, Missense | RNA, Messenger - metabolism | Arrhythmias, Cardiac - physiopathology | Spodoptera | Arrhythmias, Cardiac - pathology | Cardiomyopathies - physiopathology | Sf9 Cells | Muscle Weakness - pathology | Heart Ventricles - pathology | Disease Models, Animal | Recombinant Proteins - metabolism | Cytoskeleton - pathology | Cardiomyopathies - pathology | Mice, Transgenic | Myocardium - pathology | Recombinant Proteins - genetics | Muscular Dystrophies - pathology | Gene Knock-In Techniques | Animals | Cardiomyopathy, Dilated - physiopathology | Heart Ventricles - physiopathology | Desmin - metabolism | Muscle, Skeletal - physiopathology | Cytoskeleton - metabolism | Desmin - genetics | Muscle Weakness - physiopathology | Muscle, Skeletal - pathology | Muscular Dystrophies - physiopathology | Arrhythmia | Muscles | Index Medicus | Original Paper
Journal Article