Global Variome shared LOVD

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

Phenotype #0000342924 Individual ID 00454269 Associated disease MD Phenotype details Difficulty in walking; no Gowers' sign; no hypertrophy gastrocnemius; limb muscle force 4; 10m walk 8 sec; elevated serum CK level (18137 U/L); no family history Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite DMD Age/Examination - Age/Diagnosis - Age/Onset 7y6m 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 2024-09-13 17:19:08 +02:00 (CEST) Date last edited N/A

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