Global Variome shared LOVD

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Phenotype #0000237059 Individual ID 00311804 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details see paper; ..., myalgia, fatigability, no motor deficit, slightly hypertrophic calves; raised CK 1500-5000 UI/L; EMG normal; pulmonary evaluation normal Inheritance Familial, autosomal recessive Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset asymptomatic hyperCKemia, exercise induced fatigability Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-29 08:58:13 +02:00 (CEST) Date last edited N/A

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