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1-7 of 7 results for Dominant centronuclear myopathy

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Free access

Case report

First published 2017

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-7

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study

S Colombo, BS Cowling, L Eyler [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-4

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy

Carolina Flores-Muñoz, Marjorie Labraña-Allende, Michelle Mattar-Araos [...]

Science Progress

Free access

Research article

First published 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation

Matteo Garibaldi, Johann Böhm, Fabiana Fattori [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2018

Centronuclear myopathies under attack: A plethora of therapeutic targets

Hichem Tasfaout, Belinda S. Cowling, Jocelyn Laporte

Journal of Neuromuscular Diseases

Free access

Research article

First published 2017

RYR1-Related Myopathies: Clinical,Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre

Raquel Samões, Jorge Oliveira, Ricardo Taipa [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2016-8-30

Increasing Role of Titin Mutations in Neuromuscular Disorders

Marco Savarese, Jaakko Sarparanta, Anna Vihola [...]

Journal of Neuromuscular Diseases