Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population

Abstract Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagno...

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Bibliographic Details
Main Authors: Abdullah Al-Hedaithy, Fouad Alghamdi, Momen Almomen, Fawzia Amer, Shaikhah Al Dossari, Deeba Noreen Baig, Shahid Bashir
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Neuromuscular diseases
Genetic testing
Metabolic profiling
Consanguineous population
Gene panels
Whole genome sequencing
Online Access:https://doi.org/10.1038/s41598-024-81744-w
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https://doi.org/10.1038/s41598-024-81744-w

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