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 InternationalCreative Commons License
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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