Global Variome shared LOVD

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Phenotype #0000163712 Individual ID 00215260 Associated disease MMD Phenotype details CPK elevated (HP:0003236) 5328, difficulty in stair climbing Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 42y Age/Onset 37y Phenotype/Onset difficulty in stair climbing Protein - Owner name Rumiko Izumi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-24 21:14:03 +02:00 (CEST) Date last edited 2020-05-02 18:53:27 +02:00 (CEST)

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