Rare diseases · Sign or symptom

Centrally nucleated skeletal muscle fibers

HP:0003687

What it means

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).

Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma).

Rare diseases that can present with this9

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. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Central nuclei · Centralised nuclei · Centralised sarcomeric nuclei · Centralized nuclei · Centralized sarcomeric nuclei · Centrally nucleated skeletal muscle fibres

Centrally nucleated skeletal muscle fibers

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This 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.