Phenotype #0000210732

Individual ID 00276142
Associated disease MD
Phenotype details CK level 262 (IU/L); forced vital capacity 0.395; QRS duration 114 ms; ECG non-specific intraventricular conduction delay, left axis deviation; 20y lost ambulation; 68y respiratory symptoms, 68y non-invasive positive pressure ventilation (nocturnal)
Diagnosis/Initial dysferlinopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMD1
Age/Examination 70y (70 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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