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by Schartner, Vanessa and Schartner, Vanessa and Romero, Norma B and Romero, Norma B and Donkervoort, Sandra and Donkervoort, Sandra and Treves, Susan and Treves, Susan and Munot, Pinki and Munot, Pinki and Pierson, Tyler Mark and Pierson, Tyler Mark and Dabaj, Ivana and Dabaj, Ivana and Malfatti, Edoardo and Malfatti, Edoardo and Zaharieva, Irina T and Zaharieva, Irina T and Zorzato, Francesco and Zorzato, Francesco and Abath Neto, Osorio and Abath Neto, Osorio and Brochier, Guy and Brochier, Guy and Lornage, Xavière and Lornage, Xavière and Eymard, Bruno and Eymard, Bruno and Taratuto, Ana Lía and Taratuto, Ana Lía and Böhm, Johann and Böhm, Johann and Gonorazky, Hernan and Gonorazky, Hernan and Ramos-Platt, Leigh and Ramos-Platt, Leigh and Feng, Lucy and Feng, Lucy and Phadke, Rahul and Phadke, Rahul and Bharucha-Goebel, Diana X and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Sumner, Charlotte Jane and Bui, Mai Thao and Bui, Mai Thao and Lacene, Emmanuelle and Lacene, Emmanuelle and Beuvin, Maud and Beuvin, Maud and Labasse, Clémence and Labasse, Clémence and Dondaine, Nicolas and Dondaine, Nicolas and Schneider, Raphael and Schneider, Raphael and Thompson, Julie and Thompson, Julie and Boland, Anne and Boland, Anne and Deleuze, Jean-François and Deleuze, Jean-François and Matthews, Emma and Matthews, Emma and Pakleza, Aleksandra Nadaj and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Sewry, Caroline A and Biancalana, Valérie and Biancalana, Valérie and Quijano-Roy, Susana and Quijano-Roy, Susana and Muntoni, Francesco and Muntoni, Francesco and Fardeau, Michel and Fardeau, Michel and Bönnemann, Carsten G and Bönnemann, Carsten G and Laporte, Jocelyn and Laporte, Jocelyn
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 235 - 244
ABSTRACT Introduction: Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and... 
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
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2009, Volume 117, Issue 3, pp. 283 - 291
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 02/2017, Volume 43, Issue 1, pp. 5 - 23
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 12/2019, Volume 407, p. 116537
•A case of DNM2-related centronuclear myopathy with paraspinal amyotrophy is reported.•He showed a mutation in the GTPase effector domain of DNM2.•CT showed... 
Centronuclear myopathy | Muscle CT | Dynamin 2 | Paraspinal amyotrophy | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article