Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is the most common adult-onset class of muscular dystrophies in India, but a majority of suspected LGMDs in India remain unclassified to the genetic subtype level. The next-generation sequencing (NGS)-based approaches have allowed molecular character...

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Bibliografske podrobnosti
izdano v:Ann Indian Acad Neurol
Main Authors: Dastur, Rashna Sam, Gaitonde, Pradnya Satish, Kachwala, Munira, Nallamilli, Babi R. R., Ankala, Arunkanth, Khadilkar, Satish V., Atchayaram, Nalini, Gayathri, N., Meena, A. K., Rufibach, Laura, Shira, Sarah, Hegde, Madhuri
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2017
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5586129/
https://ncbi.nlm.nih.gov/pubmed/28904466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_129_17
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