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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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Literature Corpus work
5241d429-032c-5f8e-b788-5a4bfe3a3a65
DOI
10.21203/rs.3.rs-6612638/v1
Open publication

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Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overviewDOI 10.21203/rs.3.rs-6612638/v1
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