Title: | 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 |
Journal : | Annals of Indian academy of neurology, 20, 3 |
Authors: | Dastur RS, Author ; Gaitonde PS ; Kachwala M ; Nallamilli BRR ; Ankala A ; Khadilkar SV ; Atchayaram N ; Gayathri N ; Meena AK ; Rufibach L ; Shira S ; Hegde M |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 302 |
Languages: | English |
Keywords : | clinical presentation ; diagnosis ; DYSF gene ; dysferlin ; dysferlinopathy ; genetic diagnosis ; genetic mutations ; India ; limb girdle muscular dystrophy ; monocytes ; sequencing |
Keywords: | Dysferlinopathy;limb-girdle muscular dystrophy;monocyte-assay;next-generation sequencing; |
Pubmed / DOI : | Pubmed : 28904466 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28904466 |