Article
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Orphanet journal of rare diseases - 13 Jan 2020
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
Abstract excerpt
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 among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular...
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