Global Variome shared LOVD

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

Phenotype #0000210733 Individual ID 00276143 Associated disease MD Phenotype details CK level 159 (IU/L); forced vital capacity 0.289; QRS duration 88 ms; ECG atrial fibrillation, premature atrial contraction, non-specific ST depression; 19y lost ambulation; 79y respiratory symptoms, 79y non-invasive positive pressure ventilation (intermittent) Diagnosis/Initial dysferlinopathy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination 79y (79 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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