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1. Full Text Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
by Vasyl Nesin and Graham Wiley and Maria Kousi and E-Ching Ong and Thomas Lehmann and David J. Nicholl and Mohnish Suri and Nortina Shahrizaila and Nicholas Katsanis and Patrick M. Gaffney and Klaas J. Wierenga and Leonidas Tsiokas
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2014, Volume 111, Issue 11, pp. 4197 - 4202
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth... 
Muscular diseases | HEK293 cells | Calcium | Lymphocytes | Alleles | Miosis | Platelets | Genetic mutation | Embryos | Bleeding | Calcium signaling | Human genetics | human genetics | ZEBRAFISH | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | calcium signaling | MAST-CELLS | CRAC CHANNELS | CA2+ STORE DEPLETION | STROMAL INTERACTION MOLECULE-1 | CALCIUM | ENDOPLASMIC-RETICULUM | PROTEINS | PLASMA MEMBRANE JUNCTIONS | Humans | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | DNA Primers - genetics | Erythrocytes, Abnormal | Miosis - genetics | Base Sequence | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Calcium Channels - genetics | Child | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Mutagenesis, Site-Directed | Membrane Proteins - genetics | Zebrafish | Spleen - abnormalities | Mutation - genetics | Dyslexia - genetics | ORAI1 Protein | Sequence Analysis, DNA | Patch-Clamp Techniques | Animals | Migraine Disorders - genetics | Pedigree | Muscle Fatigue - genetics | Calcium Signaling - genetics | Calcium channels | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Cytoplasm | Proteins | Signal transduction | Cell growth | Homeostasis | Mutation | Gene expression | Index Medicus | Biological Sciences
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2. Full Text Congenital myopathies: Natural history of a large pediatric cohort
by Colombo, Irene and Scoto, Mariacristina and Manzur, Adnan Y and Robb, Stephanie A and Maggi, Lorenzo and Gowda, Vasantha and Cullup, Thomas and Yau, Michael and Phadke, Rahul and Sewry, Caroline and Jungbluth, Heinz and Muntoni, Francesco
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
OBJECTIVE:To assess the natural history of congenital myopathies (CMs) due to different genotypes. METHODS:Retrospective cross-sectional study based on... 
NEMALINE MYOPATHY | DISTAL MYOPATHY | GENOTYPE-PHENOTYPE CORRELATIONS | NEUROMUSCULAR DISORDERS | NEBULIN GENE | FOLLOW-UP | MUTATIONS | MUSCLE ALPHA-ACTIN | LINKED MYOTUBULAR MYOPATHY | CLINICAL NEUROLOGY | CENTRAL CORE DISEASE | Myopathies, Nemaline - genetics | Humans | Middle Aged | Child, Preschool | Respiratory Insufficiency - etiology | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - complications | Myopathies, Nemaline - pathology | Young Adult | Mobility Limitation | Adult | Deglutition Disorders - etiology | Female | Retrospective Studies | Child | Myopathy, Central Core - genetics | Infant, Newborn | Cross-Sectional Studies | Scoliosis - etiology | Muscle Proteins - genetics | Myopathies, Nemaline - complications | Myopathy, Central Core - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Myopathy, Central Core - complications | Consanguinity | Muscle, Skeletal - pathology | Cohort Studies | Index Medicus | Abridged Index Medicus | 176 | 185 | 227
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3. Full Text Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
by Zaharieva, I.T and Thor, M.G and Oates, E.C and Karnebeek, C. van and Hendson, G and Blom, E and Witting, N and Rasmussen, M and Gabbett, M.T and Ravenscroft, G and Sframeli, M and Suetterlin, K and Sarkozy, A and D'Argenzio, L and Hartley, L and Matthews, E and Pitt, M and Vissing, J and Ballegaard, M and Krarup, C and Slordahl, A and Halvorsen, H and Ye, X.C and Zhang, L.H and Lokken, N and Werlauff, U and Abdelsayed, M and Davis, M.R and Feng, L and Phadke, R and Sewry, C.A and Morgan, J.E and Laing, N.G and Vallance, H and Ruben, P and Hanna, M.G and Lewis, S and Kamsteeg, E.J and Mannikko, R and Muntoni, F
Brain, ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopathies are a clinically and genetically heterogeneous group of... 
Foetal akinesia | Loss-of-function mutation | Congenital myopathy | Foetal hypokinesia | SCN4A | PERIODIC PARALYSIS | MYASTHENIC SYNDROME | SODIUM-CHANNEL | NEUROSCIENCES | NA(V)1.4 | CLINICAL NEUROLOGY | PATHOPHYSIOLOGY | INACTIVATION | SKELETAL-MUSCLE | foetal hypokinesia | GENETICS | loss-of-function mutation | foetal akinesia | EXPRESSION | congenital myopathy | CHANNELOPATHIES | Severity of Illness Index | NAV1.4 Voltage-Gated Sodium Channel - genetics | Humans | Xenopus laevis | Child, Preschool | Male | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Animals | Pedigree | Hypokinesia - diagnosis | Adolescent | HEK293 Cells | Hypokinesia - genetics | Adult | Female | Myopathies, Structural, Congenital - diagnosis | Child | Infant, Newborn | Index Medicus | Abridged Index Medicus | Original
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4. Full Text RYR1 mutations are a common cause of congenital myopathies with central nuclei
by Wilmshurst, J.M and Lillis, S and Zhou, H and Pillay, K and Henderson, H and Kress, W and Müller, C.R and Ndondo, A and Cloke, V and Cullup, T and Bertini, E and Boennemann, C and Straub, V and Quinlivan, R and Dowling, J.J and Al-Sarraj, S and Treves, S and Abbs, S and Manzur, A.Y and Sewry, C.A and Muntoni, F and Jungbluth, H
Annals of Neurology, ISSN 0364-5134, 11/2010, Volume 68, Issue 5, pp. 717 - 726
Objective: Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated... 
FIBER-TYPE DISPROPORTION | SKELETAL-MUSCLE | RYANODINE RECEPTOR RYR1 | GENE | MALIGNANT HYPERTHERMIA | CENTRONUCLEAR MYOPATHY | LIPID PHOSPHATASE | AMPHIPHYSIN-2 BIN1 | LINKED MYOTUBULAR MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | CENTRAL CORE DISEASE | Europe | Humans | Child, Preschool | Genotype | Male | Myopathies, Structural, Congenital - genetics | Ryanodine Receptor Calcium Release Channel - metabolism | Phenotype | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Myopathies, Structural, Congenital - pathology | Heterozygote | Myopathies, Structural, Congenital - diagnosis | South Africa | Muscle, Skeletal - pathology | Mutation | Child | Myopathies, Structural, Congenital - etiology | Index Medicus
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5. Full Text Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
by Majczenko, Karen and Davidson, Ann E and Camelo-Piragua, Sandra and Agrawal, Pankaj B and Manfready, Richard A and Li, Xingli and Li, Jun Z and Joshi, Sucheta and Xu, Jishu and Peng, Weiping and Beggs, Alan H and Burmeister, Margit and Dowling, James J
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 365 - 371
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most... 
SKELETAL-MUSCLE | DISORGANIZATION | DISEASE | GENETICS & HEREDITY | DYNAMIN 2 | MICE | MYOTUBULAR MYOPATHY | Morpholinos - genetics | Humans | Computational Biology | Microtubule-Associated Proteins | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | Zebrafish | Mutation - genetics | Open Reading Frames - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Analysis, DNA | Blotting, Western | Muscle Proteins - genetics | Animals | Pedigree | Base Sequence | RNA Splicing - genetics | Myopathies, Structural, Congenital - pathology | Models, Genetic | Genes, Dominant - genetics | Chromosomes, Human, Pair 16 - genetics | Genetic Linkage | Gene mutations | Causes of | Muscle diseases | Genetic aspects | Research | Genetic transcription | RNA processing | Proteins | Genetic disorders | Mutation | Gene expression | Biopsy | Index Medicus | Ultrastructure | Insertion | Children | Nuclei | Skeletal muscle | Linkage analysis | Myopathy | Report
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6. Full Text Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy
by Childers, Martin K and Joubert, Romain and Poulard, Karine and Moal, Christelle and Grange, Robert W and Doering, Jonathan A and Lawlor, Michael W and Rider, Branden E and Jamet, Thibaud and Danièle, Nathalie and Martin, Samia and Rivière, Christel and Soker, Thomas and Hammer, Caroline and Van Wittenberghe, Laetitia and Lockard, Mandy and Guan, Xuan and Goddard, Melissa and Mitchell, Erin and Barber, Jane and Williams, J. Koudy and Mack, David L and Furth, Mark E and Vignaud, Alban and Masurier, Carole and Mavilio, Fulvio and Moullier, Philippe and Beggs, Alan H and Buj-Bello, Anna
Science Translational Medicine, ISSN 1946-6234, 01/2014, Volume 6, Issue 220, pp. 220ra10 - 220ra10
Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the... 
MEDICINE, RESEARCH & EXPERIMENTAL | ADENOASSOCIATED VIRAL VECTORS | SKELETAL-MUSCLE | RETRIEVER MUSCULAR-DYSTROPHY | SAFETY | HEMOPHILIA-B | LIPID PHOSPHATASE | MICE | LEBERS CONGENITAL AMAUROSIS | EXPRESSION | DELIVERY | CELL BIOLOGY | Dependovirus - genetics | Humans | Genotype | Male | Myopathies, Structural, Congenital - genetics | Mice, Knockout | Animals | Muscle Contraction | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Dogs | HEK293 Cells | Muscle Weakness | Mice | Myopathies, Structural, Congenital - mortality | Diaphragm | Mutation | Genetic Vectors | Disease Models, Animal | Genetic Therapy - methods | Index Medicus | Life Sciences | Animal biology
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7. Full Text Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
by Clarke, Nigel F and Waddell, Leigh B and Cooper, Sandra T and Perry, Margaret and Smith, Robert L. L and Kornberg, Andrew J and Muntoni, Francesco and Lillis, Suzanne and Straub, Volker and Bushby, Kate and Guglieri, Michela and King, Mary D and Farrell, Michael A and Marty, Isabelle and Lunardi, Joel and Monnier, Nicole and North, Kathryn N
Human Mutation, ISSN 1059-7794, 07/2010, Volume 31, Issue 7, pp. E1544 - E1550
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch)... 
RYR1 | Congenital myopathy | Multi-minicore disease | Congenital fiber type disproportion | MYOPATHIES | RYANODINE RECEPTOR | GENETICS & HEREDITY | MUSCLE | multi-minicore disease | congenital myopathy | congenital fiber type disproportion | CENTRAL CORE DISEASE | Genetic Predisposition to Disease | Humans | Child, Preschool | Family Health | Infant | Male | Myopathies, Structural, Congenital - genetics | Ryanodine Receptor Calcium Release Channel - metabolism | Muscle Fibers, Slow-Twitch - metabolism | Genes, Recessive | Blotting, Western | Ryanodine Receptor Calcium Release Channel - genetics | DNA Mutational Analysis | Muscle Fibers, Slow-Twitch - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Female | Heterozygote | Myopathies, Structural, Congenital - metabolism | Mutation | Child | Index Medicus
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8. Full Text An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will... 
GENETIC-VARIATION | EXOME | READ ALIGNMENT | WHOLE-GENOME | DE-NOVO MUTATIONS | VARIANTS | TITIN GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CENTRONUCLEAR MYOPATHY | DISEASE | GENETICS & HEREDITY | BURROWS-WHEELER TRANSFORM | Databases, Genetic - standards | Genetic Testing - standards | Humans | Genomics - standards | Sequence Analysis, DNA - standards | Male | Myopathies, Structural, Congenital - genetics | Financing, Organized | Genetic Testing - methods | Heart Defects, Congenital - genetics | Peer Review, Research | Genomics - economics | Female | Heart Defects, Congenital - diagnosis | Myopathies, Structural, Congenital - diagnosis | Genetic Testing - economics | Sequence Analysis, DNA - economics | Genomics - methods | Child | Sequence Analysis, DNA - methods | Index Medicus | Research | Biological Sciences | Disease | Genetic-Variation | Titin Gene | Exome | Variants | Naturvetenskap | Centronuclear Myopathy | Burrows-Wheeler Transform | Whole-Genome | Biologiska vetenskaper | De-Novo Mutations | Read Alignment | Natural Sciences
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9. Full Text Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
by Endo, Yukari and Noguchi, Satoru and Hara, Yuji and Hayashi, Yukiko K and Motomura, Kazushi and Miyatake, Satoko and Murakami, Nobuyuki and Tanaka, Satsuki and Yamashita, Sumimasa and Kizu, Rika and Bamba, Masahiro and Goto, Yu-Ichi and Matsumoto, Naomichi and Nonaka, Ikuya and Nishino, Ichizo
Human Molecular Genetics, ISSN 0964-6906, 02/2015, Volume 24, Issue 3, pp. 637 - 648
The store-operated Ca2+ release-activated Ca2+ (CRAC) channel is activated by diminished luminal Ca2+ levels in the endoplasmic reticulum and sarcoplasmic... 
SKELETAL-MUSCLE | ION SELECTIVITY | SARCOPLASMIC-RETICULUM ORIGIN | PROTEIN | ENTRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | OLIGOMERIZATION | CRAC CHANNEL | IMMUNODEFICIENCY | DEFICIENCY | Stromal Interaction Molecule 1 | Calcium Channels - metabolism | Calcium - metabolism | Humans | Child, Preschool | Male | Myopathies, Structural, Congenital - genetics | Muscle Fibers, Skeletal - metabolism | Mutation, Missense | Myopathies, Structural, Congenital - complications | ORAI1 Protein | Pedigree | HEK293 Cells | Hypocalcemia - genetics | Muscle Fibers, Skeletal - pathology | Myopathies, Structural, Congenital - pathology | Adult | Heterozygote | Calcium Channels - genetics | Child | Index Medicus
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10. Full Text Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
by Mack, David L and Poulard, Karine and Goddard, Melissa A and Latournerie, Virginie and Snyder, Jessica M and Grange, Robert W and Elverman, Matthew R and Denard, Jérôme and Veron, Philippe and Buscara, Laurine and Le Bec, Christine and Hogrel, Jean-Yves and Brezovec, Annie G and Meng, Hui and Yang, Lin and Liu, Fujun and O’Callaghan, Michael and Gopal, Nikhil and Kelly, Valerie E and Smith, Barbara K and Strande, Jennifer L and Mavilio, Fulvio and Beggs, Alan H and Mingozzi, Federico and Lawlor, Michael W and Buj-Bello, Ana and Childers, Martin K
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 839 - 854
X-linked myotubular myopathy (XLMTM) results from gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to... 
myotubularin | centronuclear | neuromuscular | myotubular | myopathy | muscle | gene therapy | adeno-associated virus | canine | pediatric | NONHUMAN-PRIMATES | EFFICIENT TRANSDUCTION | MUSCLE PATHOLOGY | MEDICINE, RESEARCH & EXPERIMENTAL | CANINE MODEL | ADENOASSOCIATED VIRUS | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | AAV | GENETICS & HEREDITY | RECEPTOR FOOTPRINT | Dependovirus - genetics | Gait | Genetic Vectors - administration & dosage | Genetic Vectors - adverse effects | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Recovery of Function | Tissue Distribution | Immunity, Humoral | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Muscle Strength | Disease Models, Animal | Reflex | Gene Expression | Transgenes - genetics | Kaplan-Meier Estimate | Muscle, Skeletal - ultrastructure | Treatment Outcome | Dependovirus - classification | Disease Progression | Genetic Vectors - genetics | Animals | Biopsy | Muscle, Skeletal - physiopathology | Dogs | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - mortality | Muscle, Skeletal - pathology | Respiratory Function Tests | Genetic Vectors - pharmacokinetics | Transgenes - immunology | Immunity, Cellular | Genetic Therapy - adverse effects | Genetic Therapy - methods | Animal models | Respiratory function | MTM1 gene | Animal euthanasia | Immune response | Disease | Clinical trials | Grants | Males | Desmin | Muscular dystrophy | Pathology | Genotype & phenotype | Musculoskeletal system | Walking | Ostomy | Life span | Trends | Mutation | Gene therapy | Age | Myopathy | Index Medicus | Life Sciences | Original
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11. Full Text Characterization of congenital myopathies at a Korean neuromuscular center
by Park, Young‐Eun and Shin, Jin‐Hong and Kim, Hyang‐Sook and Lee, Chang‐Hoon and Kim, Dae‐Seong
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
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