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Article

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Neurogenetics - 1 Feb 2005

Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J

Abstract excerpt

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals. Deletions or duplications were identified in 14 out of 90 families previously tested negative...

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Share to Dystrophin
Share to Gene Amplification
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Carrier Screening

Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 15655674
DOI: 10.1007/s10048-004-0204-1

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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