Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Abstract Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sp...

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Bibliographic Details
Main Authors: Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley, Nithyanandan T., Vedam L. Ramprasad, Ravi Gupta, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DMD gene inheritance
DMD gene mutation profiling
DMD gene panel testing
matrilineal inheritance
molecular diagnostics
NGS
Online Access:https://doi.org/10.1002/mgg3.1633

Internet

https://doi.org/10.1002/mgg3.1633

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