Rare diseases · Sign or symptom
Absent muscle fiber merosin
HP:0030091
What it means
Lack of merosin protein in the muscle biopsy.
Rare diseases that can present with this1
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absent merosin staining in muscle biopsy · Absent muscle fiber laminin alpha 2 · Absent muscle fibre laminin alpha 2 · Absent muscle fibre merosin
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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.