Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

The congenital muscular dystrophies (CMDs) comprise a heterogeneous group of heritable muscle disorders with often difficult to interpret muscle pathology, making them challenging to diagnose. Serial Sanger sequencing of suspected CMD genes, while the current molecular diagnostic method of choice, c...

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Detalles Bibliográficos
Autores principales: Valencia, C. Alexander, Ankala, Arunkanth, Rhodenizer, Devin, Bhide, Shruti, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Sparks, Susan, Bonnemann, Carsten, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543442/
https://www.ncbi.nlm.nih.gov/pubmed/23326386
http://dx.doi.org/10.1371/journal.pone.0053083

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