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Annals of Neurology, ISSN 0364-5134, 04/2017, Volume 81, Issue 4, pp. 538 - 548
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2010, Volume 19, Issue 20, pp. 3948 - 3958
Journal Article
Journal Article
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
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 02/2013, Volume 187, Issue 4, pp. 387 - 396
Journal Article
Journal Article