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Article

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PloS one - 1 Jan 2013

Valencia C Alexander, Ankala Arunkanth, Rhodenizer Devin, Bhide Shruti, Littlejohn Martin Robert, Keong Lisa Mari, Rutkowski Anne, Sparks Susan, Bonnemann Carsten, Hegde Madhuri

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23326386
DOI: 10.1371/journal.pone.0053083
PMCID: PMC3543442

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23326386-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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