Global Variome shared LOVD

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Phenotype #0000347911 Individual ID 00460183 Associated disease BMD Phenotype details serum CK level 7,415 (0y); hyperCKemia; still ambulant; no respiratory support; no ECG abnormality; left ventricular ejection fraction above 0.55; no heart failure; no CNS disorder Diagnosis/Initial BMD Inheritance Familial, X-linked recessive Diagnosis/Definite BMD Age/Examination before 10y Age/Onset - Phenotype/Onset hyperCKemia Age/Diagnosis - Protein - Owner name Akinori Nakamura Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-20 19:47:10 +01:00 (CET) Date last edited N/A

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