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Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness

Abstract Background Identifying the genetic basis of hypotonia and muscle weakness is critical for patient management and family counseling. However, diagnosis is often hindered by diverse genomic alterations, including repeat expansions, structural variants (SVs), and methylation defects. Standard-...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Eman Abuijlan, Shruti Sinha, Sathishkumar Ramaswamy, Ruchi Jain, Ikram Chekroun, Fatma Rabea, Maha El Naofal, Syeda Khadija, Radwa Sharaf, Omer S. Alkhnbashi, Fahad Ali, Alawi Alsheikh-Ali, Ahmad Abou Tayoun
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-04-01
Schriftenreihe:BMC Medicine
Schlagworte:
Hypotonia
Muscular weakness
Neuromuscular disorders
WG-LRS
SVs
CNVs
Online-Zugang:https://doi.org/10.1186/s12916-026-04850-8
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