Global Variome shared LOVD

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Phenotype #0000308499 Individual ID 00416988 Associated disease BMD Phenotype details Elevated circulating creatine kinase concentration (HP:0003236), Rhabdomyolysis (HP:0003201) Diagnosis/Initial BMD Inheritance Unknown Diagnosis/Definite - Age/Examination 08y (8 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein Mild dystrophic pattern with reduced DYS-2 and DYS-3 staining. Almost absence of DYS-2 in WB. Owner name Alba Segarra Casas Database submission license Creative Commons Attribution 4.0 International Created by Alba Segarra Casas Date created 2022-09-12 13:00:52 +02:00 (CEST) Date last edited 2022-09-12 16:08:42 +02:00 (CEST)

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