Article
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Scientific reports - 28 Nov 2025
Molaei Negar, Alagha Parnian, Khanbazi Ali, Beheshtian Maryam, Ahangari Fatemeh, Dehdahsi Shima, Fadaee Mahsa, Ashki Mehri, Ghaderi Zhila, Elahi Zohreh, Vazehan Raheleh, Parsimehr Elham, Nouri Maryam Mozaffarpour, Saei Parishad, Noudehi Khadijeh, Fatehi Fatemeh, Najafabadi Shima Zamanian, Abolhassani Ayda, Afroozan Fariba, Yazdan Hilda, Kelishomi Masoumeh Akbari, Azad Maryam, Parvini Farshid, Kassaee Seyed Mehrdad, Ramezani Mahtab, Zemorshidi Fariba, Salimipour Houman, Abdi Siamak, Bakhshandeh MohammadKazem, Fayyazi Afshin, Zamani Gholamreza, Ashrafi Mahmoud Reza, Jamali Payman, Sarraf Payam, Okhovat Ali Asghar, Ashtiani Bahram Haghi, Fatehi Farzad, Karimzadeh Parvaneh, Nafissi Shahriar, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hossein
Abstract excerpt
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 (WES), or MLPA for PMP22 in...
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