Análisis del exoma completo de 1000 pacientes latinoamericanos afectados por alguna enfermedad neuromuscular. Datos preliminares

ANDREA NOVAS MALDONADO; Alexandra Luna Angulo; Rosa Elena Escobar Cedillo; Ana Topf; Alejandro Gonzalez Chamorro; Jordi Díaz Manera; Antonio Miranda Duarte

Whole exome sequencing analysis of 1000 Latin American patients affected by a neuromuscular disorder. Preliminary data

Authors

ANDREA NOVAS MALDONADO INSTITUTO NACIONAL DE REHABILITACION
Alexandra Luna Angulo Medicina Genómica, Instituto Nacional de Rehabilitación, MEXICO
Rosa Elena Escobar Cedillo Rehabilitación, Instituto Nacional de Rehabilitación, MEXICO
Ana Topf John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research University of Newcastle, REINO UNIDO DE LA GRAN BRETAÑA E IRLANDA DEL NORTE
Alejandro Gonzalez Chamorro John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research University of Newcastle, REINO UNIDO DE LA GRAN BRETAÑA E IRLANDA DEL NORTE
Jordi Díaz Manera John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research University of Newcastle, ESPAÑA
Antonio Miranda Duarte Medicina Genómica, Instituto Nacional de Rehabilitación, MEXICO

Keywords:

WHOLE EXOME, NEUROMUSCULAR DISEASE, MOLECULAR DIAGNOSIS

References

No aplica

Downloads

PDF (Español (España))

Published

2024-10-11

How to Cite

NOVAS MALDONADO A, Luna Angulo A, Escobar Cedillo RE, Topf A, Gonzalez Chamorro A, Díaz Manera J, et al. Whole exome sequencing analysis of 1000 Latin American patients affected by a neuromuscular disorder. Preliminary data. Invest. Discapacidad [Internet]. 2024 Oct. 11 [cited 2025 Feb. 5];10(S1):s25. Available from: https://dsm.inr.gob.mx/indiscap/index.php/INDISCAP/article/view/142

Download Citation

Issue

Vol. 10 No. S1 (2024): Abstracts from the International Congress of Rehabilitation Research 2024

Section

CIIR - Investigación clínica

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

© Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which allows to reproduce and modify the content if appropiate recognition to the original source is given.

Most read articles by the same author(s)

BENJAMIN GOMEZ DIAZ, Miriam Pavelth Casillas Avila, Ileana Chavez Maisterra, Rosa Elena Escobar Cedillo, Alexandra Berenice Luna Angulo, Esgar Oswaldo Zamora Gonzalez, Norma Alejandra Vazquez Cardenas, Marlen Escotto Ramirez, Luz Berenice Lopez Hernandez, Perceptions of Healthcare Quality for Duchenne Muscular Dystrophy in Mexico: A Patient Experience Exploratory Study , Investigación en Discapacidad: Vol. 10 No. S1 (2024): Abstracts from the International Congress of Rehabilitation Research 2024
NIDIA ELIZABETH CHOQUE ROJAS, Rosa Elena Escobar Cedillo, Elisa Martinez Coria, Noemí Isela Hernández Valadez, Saul Renán León Hernández, CHANGES IN BONE QUALITY OF DUCHENNE MUSCULAR DYSTROPHY ́S PATIENTS UNDER DEFLAZACORT TREATMENT BY QUANTITATIVE COMPUTARIZAD TOMOGRAPHY (QCT), VITAMIN D AND FUNCTIONAL ASSESSMENT , Investigación en Discapacidad: Vol. 10 No. S1 (2024): Abstracts from the International Congress of Rehabilitation Research 2024
MARÍA JIMENA GUERRA VILLARREAL, Rosa Elena Escobar Cedillo, Margot Castillo, Saúl Renán León, Electromyography in patients with autosomal recessive limb-girdle muscular dystrophy (dysferlinopathy and calpainopathy) , Investigación en Discapacidad: Vol. 10 No. S1 (2024): Abstracts from the International Congress of Rehabilitation Research 2024

Similar Articles

Diego Bernardo Ortega-Zhindón, Juan Calderón-Colmenero, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Sergio Luis Mora-Canela, Jorge Luis Cervantes-Salazar, Uhl’s anomaly, a rare disease. Case report , Investigación en Discapacidad: Vol. 9 No. 1 (2023)
Lucero Monterde Cruz, Laura Flores García, Rocío Villafuerte de la Cruz, Alberto Hidalgo Bravo, Mirelle Kramis Hollands, Margarita Valdés Flores, A case report of Escobar syndrome , Investigación en Discapacidad: Vol. 5 No. 3 (2016)
Katia Melanie Camargo-Ibarias, Carlos Pineda-Villaseñor, Carlos Alberto Lozada-Pérez, Chiara Bertolazzi-Pagliari, Marwin Gutiérrez, Alfonso Benito Alfaro-Rodríguez, María Fernanda González-Hernández, Imaging in early diagnosis of systemic sclerosis. Clinical case report , Investigación en Discapacidad: Vol. 7 No. 2 (2018)
Natsuko Paniagua-Diaz, Javier Fernández-Torres, Yessica Zamudio-Cuevas, Karina Martínez Flores, María Fernanda Pérez Ruiz, Ambar López Macay, Gout, a current metabolic disease: comorbidities and new therapies , Investigación en Discapacidad: Vol. 10 No. 3 (2024)
Guadalupe Cerezo Lira, Karla Zárate Conde, Sergio Alpuche-Lazcano, Carlos Cabello, Patricia Tato, Rocío Tirado, Molecular diagnosis for the detection of human metapneumovirus from viral isolates in pediatric patients with acute respiratory infection , Investigación en Discapacidad: Vol. 5 No. 2 (2016)
Laura E Martínez-Gómez, Brígida Herrera-López, Carlos Martinez-Armenta, Silvestre Ortega-Peña, Dafne L Guido-Gómora, María Carmen Camacho-Rea, Carlos Suárez-Ahedo, Paola Vázquez-Cárdenas, Gilberto Vargas-Alarcón, Gustavo Rojas-Velasco, José Manuel Fragoso, Rosa P Vidal-Vázquez, Juan P Ramírez-Hinojosa, Felipe de J Martínez-Ruiz, Dulce M Zayago-Ángeles, Mónica Maribel Mata-Miranda, Gustavo Jesús Vázquez-Zapién, Adriana Martínez-Cuatzitl, Edith Barajas-Galicia, José Manuel Rodríguez-Pérez, Roberto Coronado-Zarco, Vania Lucas-Tenorio, Rafael Franco-Cendejas, Luis Esaú López-Jácome, Rocío Carmen Vázquez-Juárez, Jonathan J Magaña, Julio Granados, Luis Rámos-Tavera, Carlos Pineda, Gabriela Angélica Martínez-Nava, Alberto López-Reyes, Complicity of the pre-existing clinical phenotype with the outcome of death in COVID-19 patients , Investigación en Discapacidad: Vol. 8 No. 3 (2022)
María Fernanda Lammoglia-Cobo, Ricardo Lozano-Reyes, César Daniel García-Sandoval, Cynthia Michelle Avilez-Bahena, Violeta Trejo-Reveles, Rodrigo Balam Muñoz-Soto, César López-Camacho, The revolution in genetic engineering: CRISPR/Cas system Vol. 5, Núm. 2 Mayo-Agosto 2016 pp 116-128 , Investigación en Discapacidad: Vol. 5 No. 2 (2016)
Cristian G Marroquí-Sánchez, Rogelio Paniagua-Pérez, Paul Carrillo-Mora, José A Martínez-Cortez , Claudia Hernández-Arenas , Antonio Verduzco-Mendoza, Adriana Olmos-Hernández , Alberto Ávila-Luna, Antonio Bueno-Nava, Arturo Gálvez Rosas, Study of the Rep-1 microsatellite of the alpha-synuclein gene in patients with idiopathic Parkinson's disease , Investigación en Discapacidad: In progress (abstracts only)
Angélica Castañeda-de la Fuente, Iris A Mendoza-Hernández, Sacnicte Grimaldo-Galiana, Alberto Hidalgo Bravo, Achondroplasia: 10 years of experience in the clinical approach, management and multidisciplinary care at the National Institute of Rehabilitation «Luis Guillermo Ibarra Ibarra» , Investigación en Discapacidad: Vol. 10 No. 2 (2024)
Gerardo Reséndiz-Juárez, Saúl Renán León-Hernández, Paulina Carrillo-Avalos, Alma Griselda Aguilar-Segura, Family resources in rehabilitation of the patient with disability by cerebral vascular disease , Investigación en Discapacidad: Vol. 6 No. 2 (2017)

1 2 3 4 5 6 > >>

You may also start an advanced similarity search for this article.