Cargando…

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report

Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyne...

Descripción completa

Detalles Bibliográficos
Autores principales:	San Luis, Carmela V., Schwartzlow, Coreen, Nozaki, Kenkichi, Ubogu, Eroboghene E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527530/ https://www.ncbi.nlm.nih.gov/pubmed/35993408 http://dx.doi.org/10.1177/23247096221117801

Ejemplares similares

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
por: Kazamel, Mohamed, et al.
Publicado: (2020)

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
por: Hong, Young Bin, et al.
Publicado: (2016)

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)

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease
por: Rönkkö, Julius, et al.
Publicado: (2020)

Cardiogenic shock in a woman with a mitochondrial cardiomyopathy: a case report
por: Girard, Andrew, et al.
Publicado: (2023)

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
por: Stavrou, Marina, et al.
Publicado: (2021)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant
por: Tanabe, Kenji, et al.
Publicado: (2009)

Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease
por: Tassin, Tara C., et al.
Publicado: (2021)

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients
por: Wang, Wenjia, et al.
Publicado: (2017)

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C
por: Skott, Humberto, et al.
Publicado: (2019)

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy
por: Palaima, Paulius, et al.
Publicado: (2019)

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
por: Engeholm, Maik, et al.
Publicado: (2014)

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
por: Kim, Hyeon Jin, et al.
Publicado: (2013)

AAV1.NT-3 Gene Therapy for Charcot–Marie–Tooth Neuropathy
por: Sahenk, Zarife, et al.
Publicado: (2014)

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B
por: Colecchia, David, et al.
Publicado: (2018)

SIRT2‐knockdown rescues GARS‐induced Charcot‐Marie‐Tooth neuropathy
por: Zhao, Yingying, et al.
Publicado: (2021)

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy
por: Gu, Yingli, et al.
Publicado: (2022)

Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy
por: Sames, Lori, et al.
Publicado: (2014)

Diagnosis of Charcot-Marie-Tooth Disease
por: Banchs, Isabel, et al.
Publicado: (2009)

Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
por: Ruskamo, Salla, et al.
Publicado: (2017)

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy
por: DiVincenzo, Christina, et al.
Publicado: (2014)

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
por: Sainio, Markus T., et al.
Publicado: (2018)

Efficacy of exogenous pyruvate in Trembler(J) mouse model of Charcot‐Marie‐Tooth neuropathy
por: Sahenk, Zarife, et al.
Publicado: (2018)

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
por: Schiza, Natasa, et al.
Publicado: (2019)

Drosophila Models for Charcot–Marie–Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases
por: Morant, Laura, et al.
Publicado: (2021)

Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
por: Yuan, Ru‐Ying, et al.
Publicado: (2020)

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
por: Engelfried, Kathrin, et al.
Publicado: (2006)

Charcot–Marie–Tooth disease and intracellular traffic
por: Bucci, Cecilia, et al.
Publicado: (2012)

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
por: Eltawansy, Sherif Ali, et al.
Publicado: (2015)

Anejaculation in a patient with Charcot–Marie–Tooth
por: Cannarella, Rossella, et al.
Publicado: (2018)

Charcot-Marie-Tooth: From Molecules to Therapy
por: Morena, Jonathan, et al.
Publicado: (2019)

Audiological findings in the Charcot-Marie-Tooth Disease
por: Fukushima, Erika, et al.
Publicado: (2015)

Epitope-Tagged P(0)Glycoprotein Causes Charcot-Marie-Tooth–Like Neuropathy in Transgenic Mice
por: Previtali, Stefano C., et al.
Publicado: (2000)

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
por: Pedroso, José Luiz, et al.
Publicado: (2015)

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
por: Kanwal, Sumaira, et al.
Publicado: (2021)

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy
por: Almeida-Souza, Leonardo, et al.
Publicado: (2010)

Perk Ablation Ameliorates Myelination in S63del-Charcot–Marie–Tooth 1B Neuropathy
por: Musner, Nicolò, et al.
Publicado: (2016)

Charcot-Marie-Tooth hereditary neuropathy revealed after administration of docetaxel in advanced breast cancer
por: Kourie, Hampig Raphael, et al.
Publicado: (2017)

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives
por: Pisciotta, Chiara, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ltupc3veimv2ftc7noqqdb30v0