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Article

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscular disorders : NMD - 1 Aug 2010

Soltanzadeh Payam, Friez Michael J, Dunn Diane, von Niederhausern Andrew, Gurvich Olga L, Swoboda Kathryn J, Sampson Jacinda B, Pestronk Alan, Connolly Anne M, Florence Julaine M, Finkel Richard S, Bönnemann Carsten G, Medne Livija, Mendell Jerry R, Mathews Katherine D, Wong Brenda L, Sussman Michael D, Zonana Jonathan, Kovak Karen, Gospe Sidney M, Gappmaier Eduard, Taylor Laura E, Howard Michael T, Weiss Robert B, Flanigan Kevin M

Abstract excerpt

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a lar...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20630757
DOI: 10.1016/j.nmd.2010.05.010
PMCID: PMC2944769

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20630757-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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