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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Bibliografiska uppgifter
Huvudupphovsmän: Valencia, C. Alexander, Ankala, Arunkanth, Rhodenizer, Devin, Bhide, Shruti, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Sparks, Susan, Bonnemann, Carsten, Hegde, Madhuri
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2013
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543442/
https://ncbi.nlm.nih.gov/pubmed/23326386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053083
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