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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 26 - 26
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2007, Volume 39, Issue 9, pp. 1134 - 1139
Journal Article
by Böhm, Johann and Biancalana, Valérie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz‐Laguna, Andoni and Wallgren‐Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Bomme Ousager, Lilian and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S. B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Poza Aldea, Juan José and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin‐Garraud, Valérie and Béroud, Christophe and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A. H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Brennan Spitale, Allison and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean‐Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 06/2019, Volume 16, pp. 246 - 256
Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to... 
CRISPR | centronuclear myopathy | autophagy | dominant mutation | therapy | endocytosis | Cas9 | allele-specific | congenital myopathy | dynamin | Transferrin | Phenotypes | Disease | Cloning | Genomes | Patients | Autophagy | Myoblasts | Proteins | Antibiotics | Alleles | Dynamin | Fibroblasts | Mutation | Phagocytosis | Deoxyribonucleic acid--DNA | Myopathy
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 21, Issue 6, pp. 379 - 386
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2007, Volume 17, Issue 4, pp. 338 - 345
Abstract Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the myotubularin (MTM1) gene are implicated in the... 
Neurology | Centronuclear myopathy (CNM) | Skeletal muscle ryanodine receptor ( RYR1) gene | Dynamin 2 ( DNM2) gene | Muscle magnetic resonance imaging | Myotubular myopathy (MTM) | Calcium homeostasis | Myotubularin ( MTM1) gene | Myotubularin (MTM1) gene | Skeletal muscle ryanodine receptor (RYR1) gene | Dynamin 2 (DNM2) gene | X-INACTIVATION | MULTI-MINICORE DISEASE | myotubular myopathy (MTM) | MALIGNANT HYPERTHERMIA | calcium homeostasis | RODS | NEUROSCIENCES | muscle magnetic resonance imaging | CLINICAL NEUROLOGY | skeletal muscle ryanodine receptor (RYR1) gene | centronuclear myopathy (CNM) | MTM1 GENE | myotubularin (MTM1) gene | CONGENITAL MYOPATHY | AUTOSOMAL-DOMINANT | dynamin 2 (DNM2) gene | LINKED MYOTUBULAR MYOPATHY | CENTRAL CORE DISEASE | Myopathies, Structural, Congenital - physiopathology | Calcium - metabolism | Humans | Magnetic Resonance Imaging - methods | Serine - genetics | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Mutation, Missense | DNA Mutational Analysis - methods | Dose-Response Relationship, Drug | Ryanodine Receptor Calcium Release Channel - genetics | Muscle, Skeletal - drug effects | Muscle, Skeletal - physiopathology | Potassium Chloride - pharmacology | Adolescent | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Genes, Dominant - genetics | Leucine - genetics | Cresols - pharmacology | Gene mutations | Genetic research | Genetic aspects | Calcium | Ryanodine Receptor Calcium Release Channel | Serine | Biochemistry, Molecular Biology | Potassium Chloride | Leucine | Life Sciences | Magnetic Resonance Imaging | Myopathies, Structural, Congenital | Genes, Dominant | DNA Mutational Analysis | Cresols | Muscle, Skeletal | Molecular biology
Journal Article
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 05/2016, Volume 13, Issue 5, pp. 4273 - 4278
The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM).... 
Dynamin 2 | Centronuclear myopathy | Autosomal dominant inheritance | MEDICINE, RESEARCH & EXPERIMENTAL | centronuclear myopathy | dynamin 2 | ONCOLOGY | MUSCLE INVOLVEMENT | MRI | PHENOTYPE | NEONATAL ONSET | MUTATIONS | autosomal dominant inheritance | MYOTUBULAR MYOPATHY | FEATURES
Journal Article