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 InternationalCreative Commons License
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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