Cargando…

A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

Detalles Bibliográficos
Autores principales:	Huang, Xiao, Liu, Xiang-Yi, Chen, Lu, Sun, A-Ping, Zhang, Ying-Shuang, Zheng, Dan-Feng, Zhong, Yan-Feng, Fan, Dong-Sheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752664/ https://www.ncbi.nlm.nih.gov/pubmed/32826616 http://dx.doi.org/10.1097/CM9.0000000000000974

Ejemplares similares

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
por: Hayes, Leslie Hotchkiss, et al.
Publicado: (2022)

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
por: Abath, Osorio, et al.
Publicado: (2015)

Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy
por: Park, Young-Eun, et al.
Publicado: (2014)

A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation
por: Aghbolaghi, Amir Ghorbani, et al.
Publicado: (2017)

A dog model for centronuclear myopathy carrying the most common DNM2 mutation
por: Böhm, Johann, et al.
Publicado: (2022)

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2
por: Hohendahl, Annika, et al.
Publicado: (2016)

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy
por: Trochet, Delphine, et al.
Publicado: (2017)

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy
por: Fraysse, Bodvaël, et al.
Publicado: (2016)

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
por: Fujise, Kenshiro, et al.
Publicado: (2022)

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

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy
por: de Carvalho Neves, Juliana, et al.
Publicado: (2023)

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
por: Muñoz, Xènia Massana, et al.
Publicado: (2020)

Classical dynamin DNM1 and DNM3 genes attain maximum expression in the normal human central nervous system
por: Romeu, Antoni, et al.
Publicado: (2014)

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
por: González-Jamett, Arlek M., et al.
Publicado: (2017)

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
por: Fujise, Kenshiro, et al.
Publicado: (2020)

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model
por: Fongy, Anaïs, et al.
Publicado: (2019)

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

Centronuclear (myotubular) myopathy
por: Jungbluth, Heinz, et al.
Publicado: (2008)

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy
por: Koutsopoulos, Olga S., et al.
Publicado: (2011)

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
por: Catteruccia, Michela, et al.
Publicado: (2013)

Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human Myoblasts
por: Bayonés, Lucas, et al.
Publicado: (2022)

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy
por: Trochet, Delphine, et al.
Publicado: (2022)

Pathogenic Mechanisms in Centronuclear Myopathies
por: Jungbluth, Heinz, et al.
Publicado: (2014)

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease
por: Zhao, Mo, et al.
Publicado: (2018)

Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
por: Sobh, Marwa, et al.
Publicado: (2023)

A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family
por: Liu, Xiang-Yi, et al.
Publicado: (2019)

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
por: Ahmad, Ilyas, et al.
Publicado: (2022)

Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations
por: Lee, Jee-Young, et al.
Publicado: (2007)

Suspected Congenital Centronuclear Myopathy in an Arabian‐cross Foal
por: Polle, F., et al.
Publicado: (2014)

Novel SPEG variant cause centronuclear myopathy in China
por: Tang, Jia, et al.
Publicado: (2019)

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
por: Reumers, Stacha F. I., et al.
Publicado: (2021)

Centronuclear myopathies under attack: A plethora of therapeutic targets
por: Tasfaout, Hichem, et al.
Publicado: (2018)

A Possible Case of Centronuclear Myopathy: A Case Report
por: Castillo-Ferrán, Narjara, et al.
Publicado: (2023)

Targeting High Dynamin-2 (DNM2) Expression by Restoring Ikaros Function in Acute Lymphoblastic Leukemia
por: Ge, Zheng, et al.
Publicado: (2016)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
por: Biancalana, Valérie, et al.
Publicado: (2018)

Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia
por: Triplett, James D, et al.
Publicado: (2020)

The Dynamin-related GTPase, Dnm1p, Controls Mitochondrial Morphology in Yeast
por: Otsuga, Denichiro, et al.
Publicado: (1998)

DNM1, a dynamin-related gene, participates in endosomal trafficking in yeast
Publicado: (1995)

Corrigendum: Targeting High Dynamin-2 (DNM2) Expression by Restoring Ikaros Function in Acute Lymphoblastic Leukemia
por: Ge, Zheng, et al.
Publicado: (2017)

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
por: Fajardo, Val A., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_e6f4bqrlamm61tvd2i1r2udhsb