Global Variome shared LOVD

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

Phenotype #0000210728 Individual ID 00276138 Associated disease MD Phenotype details CK level 3253 (IU/L); forced vital capacity 0.712; QRS duration 110 ms; ECG non-specific intraventricular conduction delay; ambulant Diagnosis/Initial dysferlinopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 37y (37 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 2020-01-28 20:40:51 +01:00 (CET) Date last edited N/A

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