Global Variome shared LOVD

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Phenotype #0000163585 Individual ID 00215133 Associated disease MMD Phenotype details CPK max 3000, unable to stand on tiptoe Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 54y Age/Onset 25y Phenotype/Onset unable to stand on tiptoe 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 21:14:02 +02:00 (CEST) Date last edited 2020-05-02 18:54:05 +02:00 (CEST)

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