Global Variome shared LOVD

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Phenotype #0000358274 Individual ID 00473479 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details Sporadic case, 44y old, proximal upper and lower muscle weakness, positive Gower s sign, climbing difficulty, heel -toe walking inability, irritable myopathy process reported in EMG, early stage of pompe disease suggested in muscle biopsy and elevated CPK, LDH and aldolase. Inheritance Familial, autosomal recessive Age/Examination 44y (44 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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