Global Variome shared LOVD

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Phenotype #0000125747 Individual ID 00153019 Associated disease MPD Phenotype details see paper; ..., Diagnosis/Initial distal myopathy with rimmed vacuoles Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset progressive lower extremity weakness 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 19:29:58 +01:00 (CET) Date last edited N/A

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