Article
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.
Molecular genetics & genomic medicine - 1 May 2021
Shastry Arun, Aravind Sankaramoorthy, Sunil Meeta, Ramesh Keerthi, Ashley Berty, T Nithyanandan, Ramprasad Vedam L, Gupta Ravi, Seshagiri Somasekar, Nongthomba Upendra, Phalke Sameer
Abstract excerpt
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 sparse quantities of dystrophin protein. A precise and timely molecular detection of DMD mutations encourages interventions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.