Phenotype #0000210734

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00276144
Associated disease	MD
Phenotype details	CK level 114 (IU/L); forced vital capacity 0.27; QRS duration 108 ms; ECG non-specific intraventricular conduction delay; 10y lost ambulation; 63y respiratory symptoms, 64y non-invasive positive pressure ventilation (intermittent)
Diagnosis/Initial	dysferlinopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	66y (66 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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