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

JA, Bevilacqua; Ehuletche MDR, Guecaimburu; A, Perna; A, Dubrovsky; MC Jr, Franca; S, Vargas; M, Hegde; KG, Claeys; V, Straub; N, Daba; R, Faria; M, Periquet; S, Sparks; N, Thibault; R, Araujo

doi:10.1186/s13023-019-1291-2

Public

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

Shared by NobleBlocks on Jan 13, 2020 • 12:00 AM UTC

Authors:

Bevilacqua JA

Guecaimburu Ehuletche MDR

Perna A

Abstract

<h4>Background</h4>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 diagnos...

Subject

Latin America

Next-generation Sequencing

Pompe Disease

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