Global Variome shared LOVD

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Phenotype #0000237063 Individual ID 00311808 Associated disease MYOP Phenotype details see paper; ..., predominant proximal myalgia four extremities, hip girdle and lower limbs weakness; raised CK 1160-1600 UI/L; EMG myogenic; pulmonary evaluation normal Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 42y Phenotype/Onset back pain, progressive walking difficulties 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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