Global Variome shared LOVD

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Phenotype #0000358221 Individual ID 00473426 Associated disease MYOP Diagnosis/Initial mitochondrial myopathy Diagnosis/Definite - Phenotype details Bilateral ptosis, proximal and distal muscle weakness, paresthesia, inability toe-heel walking, mild facial weakness ,progressive external ophtalmoplegia, diabetes, chronic demyelinating sensorimotor polyneuropathy and evidence of irritable myopathy, mitochondrial myopathy reported in muscle biopsy. Inheritance Familial, autosomal recessive Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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