Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis
The study adds to the knowledge of the relative occurrence of various subtypes of LGMD worldwide. The inclusion of <i>GAA</i> in the NGS panel to investigate patients with LGMW is a powerful diagnostic approach to screen for late-onset Pompe disease.
Authors
- Abdullah Alsalti
- Jorge A. Bevilacqua (ORCID: https://orcid.org/0000-0002-0525-9308)
- Paulo Victor Sgobbi de Souza (ORCID: https://orcid.org/0000-0002-7416-7108)
- Hacer Durmuş (ORCID: https://orcid.org/0000-0002-6426-676X)
- Ali Alshehri (ORCID: https://orcid.org/0000-0001-6144-8819)
- С. С. Никитин (ORCID: https://orcid.org/0000-0003-3292-2758)
- Adriana Furtado
- Steven Vargas
- Nadia Daba
- Josiah Chai (ORCID: https://orcid.org/0000-0002-8155-7171)
- Márcia Gonçalves Ribeiro (ORCID: https://orcid.org/0000-0001-8906-0189)
- Roberto Araujo (ORCID: https://orcid.org/0000-0002-2625-5365)
- Abubaker Al Madani
- Armando Alves da Fonseca
- Nathan Thibault
Institutions
- Rashid Hospital (AE)
- King Faisal Specialist Hospital & Research Centre (SA)
- AVEO Oncology (United States) (US)
- Sanofi (United States) (US)
- Khoula Hospital (OM)
- Research Centre for Medical Genetics (RU)
- Hospital Clínico de la Universidad de Chile (CL)
- National Neuroscience Institute (SG)
- Sanofi (Brazil) (BR)
- Instituto Nacional de Neurología y Neurocirugía (MX)
- Istanbul University (TR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-11-29
- DOI
- https://doi.org/10.3389/fgene.2024.1477291
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.65
Funders
- Sanofi