Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica

Show other versions (1)

La enfermedad de Charcot-Marie-Tooth constituye elgrupo de neuropatías periféricas hereditarias más común a nivel mundial. Una familia con 18 afectados del cantón de Palmares (Alajuela, Costa Rica) con una neuropatía de tipo axonal y herencia autosómica recesiva, permitió localizar el gen responsabl...

Full description

Bibliographic Details
Main Authors:	Melissa Rojas-Araya, Roger Bonilla, Sergio Campos, Carolina Centeno, Christian Del Valle, Juan Pablo Pacheco, Alina Saborío, Jovel Vega, Hubert Fernández, Alejandro Leal
Format:	Article
Language:	English
Published:	Vicerractoría Investigación 2009-11-01
Series:	Revista de Biología Tropical
Subjects:	enfermedad de Charcot-Marie-Tooth CMT HMSN CMT2B2 frecuencia alélica Costa Rica Charcot-Marie-Tooth disease Allelic frequency
Online Access:	http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442009000500034

Similar Items

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica
by: Melissa Rojas-Araya, et al.
Published: (2009-11-01)

Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution
by: Alejandro Leal
Published: (2004-09-01)

Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A
by: Na-Young Park, et al.
Published: (2021-11-01)

LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
by: Paulius Palaima, et al.
Published: (2021-02-01)

Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years
by: Chiara Gemelli, et al.
Published: (2022-03-01)

Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs
by: Eduardo Luis de Aquino Neves, et al.
Published: (2011-06-01)

Charcot-Marie-Tooth 2F (Hsp27 mutations): A review
by: Nicholas U. Schwartz
Published: (2019-10-01)

A Novel ENU-Induced <i>Mfn2</i> Mutation Causes Motor Deficits in Mice without Causing Peripheral Neuropathy
by: Timothy J. Hines, et al.
Published: (2023-07-01)

Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report
by: Adrian Rodriguez-Hernandez, et al.
Published: (2022-10-01)

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature
by: Sara Massucco, et al.
Published: (2024-01-01)

Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom
by: Philipp Berger, et al.
Published: (2004-11-01)

Neurofilaments in health and Charcot-Marie-Tooth disease
by: Farah Kotaich, et al.
Published: (2023-12-01)

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
by: Sumaira Kanwal, et al.
Published: (2021-06-01)

A recessive Trim2 mutation causes an axonal neuropathy in mice
by: Jian J. Li, et al.
Published: (2020-07-01)

Cell and context-dependent sorting of neuropathy-associated protein NDRG1 – insights from canine tissues and primary Schwann cell cultures
by: Fredrik S. Skedsmo, et al.
Published: (2019-04-01)

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
by: Katy Eichinger, et al.
Published: (2022-06-01)

Aberrant Splicing in <i>GJB1</i> and the Relevance of 5′ UTR in CMTX1 Pathogenesis
by: Federica Boso, et al.
Published: (2020-12-01)

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
by: Cara R. Schiavon, et al.
Published: (2021-02-01)

A video protocol for rapid dissection of mouse dorsal root ganglia from defined spinal levels
by: James N. Sleigh, et al.
Published: (2020-06-01)

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation
by: Paola Saveri, et al.
Published: (2020-04-01)

Evaluation and Management of Cavus Foot in Adults: A Narrative Review
by: Boquan Qin, et al.
Published: (2022-06-01)

Proteome profile of peripheral myelin in healthy mice and in a neuropathy model
by: Sophie B Siems, et al.
Published: (2020-03-01)

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
by: Nan Jiang, et al.
Published: (2023-02-01)

Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
by: Sungeun Hwang, et al.
Published: (2021-10-01)

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
by: Alejandro Leal, et al.
Published: (2014-12-01)

Recent Advances in <i>Drosophila</i> Models of Charcot-Marie-Tooth Disease
by: Fukiko Kitani-Morii, et al.
Published: (2020-10-01)

Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A
by: Vukan Ivanovic, et al.
Published: (2022-03-01)

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication
by: W. Marques Jr., et al.
Published: (2003-10-01)

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
by: Masahiro Ando, et al.
Published: (2022-06-01)

Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
by: Elizabeth Kalotay, et al.
Published: (2023-05-01)

The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders
by: Alessandro Didonna, et al.
Published: (2019-05-01)

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
by: Shahram Attarian, et al.
Published: (2021-10-01)

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease
by: Gao-Hui Cao, et al.
Published: (2024-02-01)

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
by: C. Vinciguerra, et al.
Published: (2023-07-01)

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies
by: Arnaud Jacquier, et al.
Published: (2022-06-01)

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients
by: Van Khanh Tran, et al.
Published: (2024-02-01)

Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy
by: Olga Shchagina, et al.
Published: (2023-06-01)

In Vitro Study of the Effects of Five Chemically Modified Tetracycline (CMT) Analogs on Human Epidermal Melanogenesis: Potential as Novel Anti-Melanogenic Agents
by: Shilpi Goenka, et al.
Published: (2023-10-01)

Clinical and genetic characteristics of Charcot-Marie-Tooth disease with cerebellar ataxia
by: ZHU Xiaowei, et al.
Published: (2023-03-01)

Evaluación del funcionamiento del sistema nervioso autonómico en pacientes con polineuropatía de Charcot Marie Tooth tipo 1 Evaluation of the functioning of the autonomic nervous system in patients with Charcot Marie Tooth 1 polyneuropathy
by: Luis Alberto Molina Martín, et al.
Published: (2005-04-01)