Global Variome shared LOVD

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Phenotype #0000115624 Individual ID 00142876 Associated disease DMD Phenotype details gastrocnemius muscle pseudohypertrophy, myogenic damage; elevated serum CPK (HP:0003236) 23430 U/l Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Onset 5y Phenotype/Onset difficulty climbing stairs, not able to crouch Age/Diagnosis - Protein - Owner name Jiang Wenting Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-11-12 10:40:16 +01:00 (CET) Date last edited 2014-05-02 17:55:18 +02:00 (CEST)

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