Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Neuromuscular disorders : NMD - 1 Nov 2009

Sedlácková Jana, Vondrácek Petr, Hermanová Markéta, Zámecník Josef, Hrubá Zuzana, Haberlová Jana, Kraus Josef, Maríková Tat'ána, Hedvicáková Petra, Vohánka Stanislav, Fajkusová Lenka

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse transcription-PCR, protein truncation test, an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Czech Republic
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystrophin

Share to Muscular Dystrophy, Duchenne

Share to Point Mutation

Share to RNA, Messenger

Source

Identifiers

PMID: 19783145
DOI: 10.1016/j.nmd.2009.08.011

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19783145-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.PMID 19783145Read ↗

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.Semantic proximity Read ↗

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.Semantic proximity Read ↗

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.Semantic proximity Read ↗

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Semantic proximity Read ↗

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.Semantic proximity Read ↗

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.Semantic proximity Read ↗

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.Semantic proximity Read ↗

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.Semantic proximity Read ↗

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapySemantic proximity Read ↗

Protein truncation test (PTT) for rapid detection of translation-terminating mutationsSemantic proximity Read ↗

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.Semantic proximity Read ↗

Read-through approach for stop mutations in Duchenne muscular dystrophy. An update.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.