The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Abstract Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagno...

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Bibliographic Details
Main Authors: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Next-generation sequencing
Limb-girdle muscle weakness
Pompe disease
Latin America
Online Access:https://doi.org/10.1186/s13023-019-1291-2

Internet

https://doi.org/10.1186/s13023-019-1291-2

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