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Article

'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.

Neuromuscular disorders : NMD - 1 Dec 2013

Donkervoort Sandra, Schindler Alice, Tesi-Rocha Carolina, Schreiber Allison, Leach Meganne E, Dastgir Jahannaz, Hu Ying, Mankodi Ami, Wagner Kathryn R, Friedman Neil R, Bönnemann Carsten G

Abstract excerpt

Duchenne muscular dystrophy (DMD) is caused by mutations in Dystrophin and affects 1 in 3600-6000 males. It is characterized by progressive weakness leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis. We describe the unusual phenotype of 3 patients with skeletal dysplasias in whom an additional diagnosis of DMD was later established. Two unrelated boys presented with...

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Share to Bone Diseases, Developmental
Share to Cartilage Oligomeric Matrix Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I

Share to Collagen Type I, alpha 1 Chain

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Share to Muscle, Skeletal

Share to Muscular Dystrophy, Duchenne

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Source

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Identifiers

PMID: 24070816
DOI: 10.1016/j.nmd.2013.08.003
PMCID: PMC5030769

Genes

DMD
COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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