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

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 qua...

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Detalles Bibliográficos
Autores principales: Shastry, Arun, Aravind, Sankaramoorthy, Sunil, Meeta, Ramesh, Keerthi, Ashley, Berty, T., Nithyanandan, Ramprasad, Vedam L., Gupta, Ravi, Seshagiri, Somasekar, Nongthomba, Upendra, Phalke, Sameer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172192/
https://www.ncbi.nlm.nih.gov/pubmed/33960727
http://dx.doi.org/10.1002/mgg3.1633

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