Rare diseases · Sign or symptom
Abnormal muscle fiber dystrophin expression
HP:0030096
What it means
A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.
Part of the broader category
Also called: Abnormal muscle fibre dystrophin expression
Abnormal muscle fiber dystrophin…
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.