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Pacing and Clinical Electrophysiology, ISSN 0147-8389, 04/2019, Volume 42, Issue 4, pp. 487 - 488
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Journal Article
1988, ISBN 0632019034, ix, 203
Book
Muscle & Nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 235 - 244
Introduction : Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and perinatal... 
molecular genetics | core | fiber type disproportion | nemaline rods | central nuclei | congenital myopathy | NEMALINE MYOPATHY | NEBULIN GENE | CLINICAL-FEATURES | NEUROSCIENCES | ROD MYOPATHY | CLINICAL NEUROLOGY | FIBER-TYPE DISPROPORTION | RYR1 MUTATIONS | ALPHA-ACTIN GENE | DNM2-RELATED CENTRONUCLEAR MYOPATHY | PATHOLOGICAL FEATURES | CENTRAL CORE DISEASE | Myopathies, Nemaline - genetics | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Nemaline - pathology | Young Adult | Adult | Female | Retrospective Studies | Myotonia Congenita - genetics | Child | Myopathy, Central Core - genetics | Republic of Korea | Myopathy, Central Core - congenital | Dynamins - genetics | Treatment Outcome | Myotonia Congenita - pathology | Muscle Proteins - genetics | Myopathy, Central Core - pathology | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Age of Onset | Muscle Fibers, Skeletal - pathology | Myopathies, Structural, Congenital - pathology | Mutation | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Health aspects | Hypotonia | Congenital diseases | Complications | Nemaline myopathy | Ryanodine receptors | Muscles | Children | Central core disease | Patients | Myopathy | Index Medicus
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
1988, ISBN 0409951919, xi, 347, [2] p. of plates
Book
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
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 | Proteins | Genetics | Mitochondria | Gene expression | Index Medicus | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Biological Sciences
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2018, Volume 26, Issue 4, pp. 1082 - 1092
Myotubular myopathy, or X-linked centronuclear myopathy, is a severe muscle disorder representing a significant burden for patients and their families. It is... 
centronuclear myopathy | myotubularin | shRNA | X-linked myotubular myopathy | AAV | XLMTM | DNM2 | MTM1 | congenital myopathy | dynamin | MEDICINE, RESEARCH & EXPERIMENTAL | MEDIATED GENE-TRANSFER | MDX MICE | SKELETAL-MUSCLE | ACTIN-MYOSIN INTERACTIONS | DOMINANT CENTRONUCLEAR MYOPATHY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | LIPID PHOSPHATASE | DYNAMIN 2 | MTM1 MUTATIONS | EXPRESSION | GTPASE | Immunohistochemistry | Dependovirus - genetics | RNA, Small Interfering - genetics | Genetic Vectors - administration & dosage | Muscle, Skeletal - ultrastructure | Dynamin II - genetics | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Treatment Outcome | Injections, Intramuscular | Genetic Vectors - genetics | Gene Knockdown Techniques | Mice, Knockout | Phenotype | Animals | RNA Interference | Myopathies, Structural, Congenital - therapy | Myopathies, Structural, Congenital - pathology | Mice | Muscle, Skeletal - pathology | RNA, Messenger | Disease Models, Animal | Genetic Therapy - methods | Neonates | Force | Antisense oligonucleotides | Histology | mRNA | Injection | Gene expression | Phosphatase | Kinases | Autophagy | Patients | Atrophy | Proteins | Genotype & phenotype | Plasmids | Ultrastructure | Biopsy | Dynamin | Mutation | Myopathy | Index Medicus | Original
Journal Article
Journal Article
Case Report - Desmin-related myopathy: Report of a rare case, 12/2005
The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the... 
Desminopathy, Desmin-related myopathy, Protein surplus myopathies, Congenital myopathies, Protein aggregating myopathies
Journal
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 28, pp. E6566 - E6575
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding... 
Laing distal myopathy | Abba/Thin | Myosin myopathy | Drosophila | Myosin | STABILITY | MULTIDISCIPLINARY SCIENCES | myosin myopathy | HEAVY-CHAIN GENE | CARDIOMYOPATHY | myosin | MUSCLE | DISTAL MYOPATHY | INTEGRITY | STORAGE MYOPATHY | MUTATIONS | EXPRESSION | MYH7 | Tripartite Motif Proteins - biosynthesis | Distal Myopathies - pathology | Humans | Myosin Heavy Chains - genetics | Tripartite Motif Proteins - genetics | Myocardium - pathology | Genetic Loci | Drosophila Proteins - metabolism | Myosin Heavy Chains - metabolism | Homozygote | Distal Myopathies - genetics | Animals | Myocardium - metabolism | Distal Myopathies - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Disease Models, Animal | Genetic aspects | Muscle diseases | Gene expression | Health aspects | Heart | Larvae | Body wall | Cardiomyopathy | Flight | Proteins | Genotype & phenotype | Filaments | Heart diseases | Phenotypes | Cardiac muscle | Molecular motors | Muscles | Cardiomyocytes | Muscle contraction | Coronary artery disease | Skeletal muscle | Insects | Life span | Morphology | Sarcomeres | Myopathy | Structure-function relationships | Index Medicus | Biological Sciences | PNAS Plus | Thin | Abba | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Biomedical Genetics | Genetik | Clinical Medicine | Neurology | Biomedicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Genetics | Natural Sciences
Journal Article