Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This stu...

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Bibliographic Details
Main Authors: Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Agarwal
calpainopathy
founder mutation
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=1;spage=108;epage=111;aulast=Khadilkar

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=1;spage=108;epage=111;aulast=Khadilkar

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