Global Variome shared LOVD

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Phenotype #0000358082 Individual ID 00473287 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details age 14y , onset 7y affected deceased mother (Suspected to muscular dystrophy or polymyositis), standing, climbing and running difficulty, positive Gower’s sign, muscular dystrophy reported in muscle biopsy. Normal EMG, normal echocardiography, negative IHC report for all examined antibodies, slightly elevated CPK, calf atrophy in muscle MRI. Inheritance Familial, autosomal recessive Age/Examination 14y (14 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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