X-linked myotubular myopathy

Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

(2021) Sarah Djeddi et al.   MOLECULAR THERAPY

Spectrum of Clinical Features in XL-MTM Carriers: An International Questionnaire Study

(2021) Stacha F.I. Reumers et al.   NEUROLOGY

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

(2021) Cristina Molera et al.   Journal of Neuromuscular Diseases

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels

(2020) Natasha J. Olby et al.   NEUROMUSCULAR DISORDERS

Letter to the Editor

(2020) Perry B. Shieh et al.   HUMAN GENE THERAPY

Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy

(2020) James M. Wilson et al.   HUMAN GENE THERAPY

X-linked myotubular myopathy

(2019) Mélanie Annoussamy et al.   NEUROLOGY

The expanding spectrum of neurological disorders of phosphoinositide metabolism

(2019) Jonathan R. Volpatti et al.   Disease Models & Mechanisms

Adult MTM1-related myopathy carriers

(2019) Benjamin T. Cocanougher et al.   NEUROLOGY

AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy

(2019) Jean-Baptiste Dupont et al.   MOLECULAR THERAPY

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

(2018) Nathalie Danièle et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle

(2018) Christos Gavriilidis et al.   NATURE CELL BIOLOGY

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

(2018) Mo Zhao et al.   Neurotherapeutics

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

(2018) Suzie Buono et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tamoxifen therapy in a murine model of myotubular myopathy

(2018) Nika Maani et al.   Nature Communications

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

(2018) Elinam Gayi et al.   Nature Communications

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

(2017) Matthieu A. Raess et al.   HUMAN MOLECULAR GENETICS

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

(2017) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

(2017) David L. Mack et al.   MOLECULAR THERAPY

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

(2017) Alan H. Beggs et al.   MUSCLE & NERVE

A natural history study of X-linked myotubular myopathy

(2017) Kimberly Amburgey et al.   NEUROLOGY

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

(2017) Hichem Tasfaout et al.   Nature Communications

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

(2016) Nesrin Sabha et al.   JOURNAL OF CLINICAL INVESTIGATION

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

(2016) Michael W. Lawlor et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A phosphoinositide conversion mechanism for exit from endosomes

(2016) Katharina Ketel et al.   NATURE

Muscle from a 20-week-old myotubular myopathy fetus is not myotubular

(2016) Kohei Hamanaka et al.   NEUROMUSCULAR DISORDERS

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

(2015) G Shelton et al.   Skeletal Muscle

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

(2014) Pankaj B. Agrawal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

(2014) M. K. Childers et al.   Science Translational Medicine

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

(2013) Barbara Royer et al.   EMBO REPORTS

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways

(2013) Lama Al-Qusairi et al.   FASEB JOURNAL

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report

(2013) T. Motoki et al.   NEUROMUSCULAR DISORDERS

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

(2013) Vandana A. Gupta et al.   PLoS Genetics

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

(2012) Jorge Oliveira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical utility gene card for: Centronuclear and myotubular myopathies

(2012) Valérie Biancalana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice

(2012) K. M. Fetalvero et al.   MOLECULAR AND CELLULAR BIOLOGY

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

(2012) Leonela Amoasii et al.   PLoS Genetics

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

(2011) Michael W. Lawlor et al.   AMERICAN JOURNAL OF PATHOLOGY

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

(2011) Christopher R. Pierson et al.   HUMAN MOLECULAR GENETICS

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

(2011) Ning Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance

(2011) Inês Ribeiro et al.   PLoS Genetics

The role of MTMR14 in autophagy and in muscle disease

(2010) Elizabeth M. Gibbs et al.   Autophagy

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

(2010) Karim Hnia et al.   JOURNAL OF CLINICAL INVESTIGATION

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

(2009) Isabelle Vergne et al.   EMBO JOURNAL

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

(2008) Anna Buj-Bello et al.   HUMAN MOLECULAR GENETICS

Sequential Actions of Myotubularin Lipid Phosphatases Regulate Endosomal PI(3)P and Growth Factor Receptor Trafficking

(2008) Canhong Cao et al.   MOLECULAR BIOLOGY OF THE CELL

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases