Centronuclear (myotubular) myopathy

Centronuclear (myotubular) myopathy

<p>Abstract</p> <p>Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.</p> <p>The incidence of X-linked myotubular myopathy is estimated at 2/100000...

Full description

Bibliographic Details
Main Authors:	Wallgren-Pettersson Carina, Jungbluth Heinz, Laporte Jocelyn
Format:	Article
Language:	English
Published:	BMC 2008-09-01
Series:	Orphanet Journal of Rare Diseases
Online Access:	http://www.ojrd.com/content/3/1/26

Similar Items

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
by: Raquel Gómez-Oca, et al.
Published: (2021-10-01)

Respiratory care in myotubular myopathy
by: Hui-leng Tan, et al.
Published: (2021-03-01)

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
by: Robb, SA, et al.
Published: (2011)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
by: Valérie Biancalana, et al.
Published: (2018-09-01)

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
by: Osorio Abath Neto, et al.
Published: (2015-06-01)

X-linked recessive myotubular myopathy with mutations
by: Young-Mi Han, et al.
Published: (2013-03-01)

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
by: Xènia Massana Muñoz, et al.
Published: (2020-09-01)

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
by: Hichem Tasfaout, et al.
Published: (2017-06-01)

A dog model for centronuclear myopathy carrying the most common DNM2 mutation
by: Johann Böhm, et al.
Published: (2022-04-01)

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
by: Leonela Amoasii, et al.
Published: (2012-01-01)

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy
by: Suzie Buono, et al.
Published: (2022-07-01)

Centronuclear myopathy: subgroup characterized by tissue mosaicism
Published: (1999-01-01)

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
by: Elinam Gayi, et al.
Published: (2018-11-01)

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy
by: Delphine Trochet, et al.
Published: (2018-02-01)

Tamoxifen therapy in a murine model of myotubular myopathy
by: Nika Maani, et al.
Published: (2018-11-01)

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy
by: Juliana de Carvalho Neves, et al.
Published: (2023-09-01)

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
by: Catherine Koch, et al.
Published: (2020-06-01)

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
by: Olga S Koutsopoulos, et al.
Published: (2011-01-01)

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
by: Raquel Gómez-Oca, et al.
Published: (2022-11-01)

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy
by: Vandersmissen, I, et al.
Published: (2018)

Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
by: Hyewon Woo, et al.
Published: (2022-07-01)

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice
by: Xènia Massana-Muñoz, et al.
Published: (2023-08-01)

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation
by: Kurul Semra, et al.
Published: (2010-12-01)

A Possible Case of Centronuclear Myopathy: A Case Report
by: Narjara Castillo-Ferrán, et al.
Published: (2023-06-01)

Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
by: Hyewon Woo, et al.
Published: (2022-10-01)

Natural history of a mouse model of X-linked myotubular myopathy
by: Ege Sarikaya, et al.
Published: (2022-07-01)

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.
by: Johann Böhm, et al.
Published: (2013-06-01)

Mitochondrial alterations in dynamin 2-related centronuclear myopathy Alterações mitocondriais na miopatia centronuclear relacionadas a dinamina 2
by: Edmar Zanoteli, et al.
Published: (2009-03-01)

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
by: Aymen Rabai, et al.
Published: (2019-06-01)

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy.
by: Johann Böhm, et al.
Published: (2013-06-01)

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
by: Val A. Fajardo, et al.
Published: (2015-08-01)

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy
by: Karla G. Espinosa, et al.
Published: (2022-05-01)

X-linked myotubular myopathy: A prospective international natural history study
by: Servais, L, et al.
Published: (2019)

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
by: James J Dowling, et al.
Published: (2009-02-01)

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
by: James J. Dowling, et al.
Published: (2012-11-01)

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
by: Vandana A Gupta, et al.
Published: (2013-06-01)

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
by: Kenshiro Fujise, et al.
Published: (2022-06-01)

Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset
by: Christopher Burrell, et al.
Published: (2018-10-01)

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy
by: Eve Fouarge, et al.
Published: (2021-01-01)

A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation
by: Amir Ghorbani Aghbolaghi, et al.
Published: (2017-06-01)