Global Variome shared LOVD

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Phenotype #0000276955 Individual ID 00383167 Associated disease DMD Phenotype details elevated CK level 6924 (IU/L); 6y-still ambulant; Gowers sign (HP:0003391), Calf muscle pseudohypertrophy (HP:0003707), Difficulty walking (HP:0002355), Muscle weakness (HP:0001324) Diagnosis/Initial DMD Inheritance Unknown Diagnosis/Definite DMD Age/Examination 06y (6 years) Age/Onset 05y Phenotype/Onset - Age/Diagnosis 06y Protein IHC DMD dys2 negative Owner name Rusdy Ghazali Malueka Database submission license Creative Commons Attribution 4.0 International Created by Rusdy Ghazali Malueka Date created 2021-09-26 13:47:56 +02:00 (CEST) Date last edited 2023-12-10 22:10:39 +01:00 (CET)

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