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Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
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
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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 33, pp. 14697 - 14702
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male... 
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Mitochondria | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Genetics | Biological Sciences
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2018, Volume 5, Issue 2, pp. 257 - 260
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive... 
SPEG | myotubularin | Centronuclear myopathy | myotubular myopathy | congenital myopathy | MTM1 | Phenotypes | Dilated cardiomyopathy | Cardiomyopathy | Protein kinase | Mutation | Kinases | Nuclei | Skeletal muscle | Myopathy
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2018, Volume 28, Issue 11, pp. 952 - 955
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the gene. Female carriers are believed to be usually... 
Genetics | Neuromuscular | X-linked myotubular myopathy | Cardiomyopathy | MTM1 | LINKED MYOTUBULAR MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Pulmonary function tests | Genetic disorders | Respiratory insufficiency | Heart diseases
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 339 - 345
We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a... 
Centronuclear myopathies | Manifesting female carriers | Congenital myopathies | Necklace fibers | MTM1 | Medical colleges | Gene mutations | Genes | Patient outcomes | Jewelry | Genetic aspects | Infants
Journal Article