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

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 diagnosis amon...

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Detalles Bibliográficos
Autores principales: Bevilacqua, Jorge A., Guecaimburu Ehuletche, Maria del Rosario, Perna, Abayuba, Dubrovsky, Alberto, Franca, Marcondes C., Vargas, Steven, Hegde, Madhuri, Claeys, Kristl G., Straub, Volker, Daba, Nadia, Faria, Roberta, Periquet, Magali, Sparks, Susan, Thibault, Nathan, Araujo, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958675/
https://www.ncbi.nlm.nih.gov/pubmed/31931849
http://dx.doi.org/10.1186/s13023-019-1291-2

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