Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000222788 Individual ID 00289157 Associated disease BMD/DMD Diagnosis/Initial BMD/DMD Diagnosis/Definite BMD Phenotype details no symptoms at diagnosis, elevated CK level, quadriceps hypotrophy and calf hypertrophy; ventricle dilation/m2 65,4, EF 0.602; no respiratory involvement; elevated CK24.4x Inheritance Unknown Age/Examination 17y6m (17 years, 6 months) Age/Diagnosis 14y4m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-03-01 17:33:28 +01:00 (CET) Date last edited N/A

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