Global Variome shared LOVD

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Phenotype #0000203350 Individual ID 00265563 Associated disease MD Phenotype details see paper; …, difficulty in stair climbing Diagnosis/Initial dysferlinopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 47y Age/Onset 21y 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 2019-08-23 12:48:12 +02:00 (CEST) Date last edited 2020-05-02 19:29:20 +02:00 (CEST)

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