Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Chilean patients presenting with limb-girdle muscle...

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Bibliographic Details
Main Authors: Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
limb-girdle muscle weakness
LGMD
hereditary myopathies
high-throughput sequencing
next-generation sequencing
Chile
Online Access:https://www.mdpi.com/2073-4425/13/6/1076

Internet

https://www.mdpi.com/2073-4425/13/6/1076

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