Global Variome shared LOVD

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

Phenotype #0000272248 Individual ID 00377057 Associated disease MD Phenotype details muscle weakness, calf hypertrophy, elevated serum CK (18889 U/L), 9y-wheelchair dependent, no cardiac/respiratory involvement; similarly affected brother Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein WB 0-0.05 DMD Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-29 21:26:14 +02:00 (CEST) Date last edited N/A

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