Phenotype #0000357764

Individual ID 00472969
Associated disease MYOP
Diagnosis/Initial metabolic myopathy
Diagnosis/Definite -
Phenotype details Myopia; Muscle weakness, upper/lower limbs; Positive history for papillary thyroid Cancer; EMG-NCV: myopathic process with prominently spontaneous activity in all examined muscles; Antibodies to Gangliosids: negative; Elevated level of CPK & Aldolase; Muscle biopsy: lipid storage myopathy
Inheritance Familial, autosomal recessive
Age/Examination 36y (36 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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