Article
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
Journal of molecular neuroscience : MN - 1 May 2022
Zamani Gholam Reza, Mohammadi Mohammad Farid, Tavasoli Ali Reza, Ashrafi Mahmoud Reza, Hosseinpour Sareh, Ghabeli Homa, Pourbakhtyaran Elham, Haghighi Roya, Hosseiny Seyyed Mohammad Mahdi, Mohammadi Pouria, Heidari Morteza
Abstract excerpt
This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian patients, who are clinically suspected. Whole-exome sequencing was utilized to detect disease-causing variants in 40 MLPA-negative DMD patients. Disease-causing variants were detected in the DMD gene in 36/40 of the patients (90%), and 4/40 of them (10%) remained...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.