Abnormal mitochondria in muscle tissue

What it means

An abnormality of the mitochondria in muscle tissue.

This finding is typically demonstrated by muscle biopsy.

Rare diseases that can present with this5

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: Abnormal mitochondria in muscle