Global Variome shared LOVD

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Phenotype #0000125748 Individual ID 00153020 Associated disease MPD Phenotype details see paper; ... Diagnosis/Initial distal myopathy with rimmed vacuoles Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 45y (45 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 2018-02-10 19:38:23 +01:00 (CET) Date last edited N/A

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