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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Detalles Bibliográficos
Autores principales: Khadilkar, Satish V., Chaudhari, Chetan R., Dastur, Rashna S., Gaitonde, Pradnya S., Yadav, Jayendra G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782525/
https://www.ncbi.nlm.nih.gov/pubmed/27011640
http://dx.doi.org/10.4103/0972-2327.175435

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