Global Variome shared LOVD

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Phenotype #0000163549 Individual ID 00215097 Associated disease MMD Phenotype details CPK elevated (HP:0003236) 4000, calf atrophy and unable to stand on tiptoe Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 34y Age/Onset 17y Phenotype/Onset calf atrophy and 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 18:42:00 +02:00 (CEST)

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