Publications by authors named "Abdullah Mohammed Al Salti"
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.
Jorge Alfredo Bevilacqua Abdullah Mohammed Al-Salti Abubaker Al Madani Armando Alves da Fonseca Hacer Durmus
Front Genet
November 2024
Article Synopsis
- Hereditary myopathies involve several hundred genetic variants, with Limb-girdle muscular dystrophies (LGMDs) being a diverse group of disorders linked to more than 30 genes, characterized primarily by limb weakness.
- The study analyzed 2,372 patients across 21 countries to assess the prevalence of LGMD and Pompe disease through next-generation sequencing (NGS), finding that 11% had pathogenic genetic variants, with a high diagnostic effectiveness for LGMD (86.2%).
- The findings emphasize the importance of including specific genes in NGS panels for diagnosing LGMW, contributing to a better understanding of LGMD and aiding in the identification of late-onset Pompe disease.
Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD).
View Article and Find Full Text PDF