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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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Detalhes bibliográficos
Publicado no:Ann Indian Acad Neurol
Main Authors: Khadilkar, Satish V., Chaudhari, Chetan R., Dastur, Rashna S., Gaitonde, Pradnya S., Yadav, Jayendra G.
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4782525/
https://ncbi.nlm.nih.gov/pubmed/27011640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.175435
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