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-...

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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2026-04-01
Series:	BMC Medicine
Assuntos:	Hypotonia Muscular weakness Neuromuscular disorders WG-LRS SVs CNVs
Acceso en liña:	https://doi.org/10.1186/s12916-026-04850-8
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