Article
Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overview
2025-06-10
Abstract excerpt
<title>Abstract</title> <p>Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11 years to highlight gene involvement and mutational patterns. Patients underwent gene panel sequencing (GPS), whole exome sequencing (W...
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Identifiers and source
- Literature Corpus work
- 5241d429-032c-5f8e-b788-5a4bfe3a3a65
- DOI
- 10.21203/rs.3.rs-6612638/v1
