Phenotype #0000357890

Individual ID 00473095
Associated disease MYOP
Diagnosis/Initial metabolic myopathy
Diagnosis/Definite -
Phenotype details onset 15y with muscle weakness; Generalized muscle wasting since 7y, Muscle cramps; Muscle biopsy suggestive of GSD, probably type III; Elevated level of CPK; Mild abnormal EEG; EMG-NCV: mild non-inflammatory myopathic process; Muscle biopsy revealed vacuolar myopathies with excess glycogen.
Inheritance Unknown
Age/Examination 16y (16 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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