Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases...

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Detalles Bibliográficos
Autores principales: Landires, Iván, Núñez-Samudio, Virginia, Fernandez, Julián, Sarria, Cesar, Villareal, Víctor, Córdoba, Fernando, Apráez-Ippolito, Giovanni, Martínez, Samuel, Vidal, Oscar M., Vélez, Jorge I., Arcos-Holzinger, Mauricio, Landires, Sergio, Arcos-Burgos, Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074289/
https://www.ncbi.nlm.nih.gov/pubmed/31991774
http://dx.doi.org/10.3390/genes11020129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074289/
https://www.ncbi.nlm.nih.gov/pubmed/31991774
http://dx.doi.org/10.3390/genes11020129

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