Global Variome shared LOVD

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

Phenotype #0000344088 Individual ID 00455534 Associated disease MD Phenotype details elevated CK level (10.6x), EMG myopathic Diagnosis/Initial proximo-distal myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - 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 2024-10-11 17:12:29 +02:00 (CEST) Date last edited N/A

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