Global Variome shared LOVD

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Phenotype #0000316105 Individual ID 00424905 Associated disease BMD Phenotype details serum CK level 3,430 (42y); easy fatigability; after 50y-lost ambulation; no respiratory support; forced vital capacity above 0.80; ECG abnormality; left ventricular ejection fraction below 0.55; no heart failure; maladjustment Diagnosis/Initial BMD Inheritance Familial, X-linked Diagnosis/Definite BMD Age/Examination 66y (66 years) Age/Onset 42y Phenotype/Onset easy fatigability Age/Diagnosis 42y Protein IHC faint and patchy DMD Owner name Akinori Nakamura Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Akinori Nakamura Date created 2022-11-23 08:00:23 +01:00 (CET) Date last edited 2025-01-20 17:32:20 +01:00 (CET)

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