Phenotype #0000035736

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00018415
Associated disease	VMCQA
Phenotype details	weakness, fatigue, increased CK levels, large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
CK-level	-
Protein	-
Owner name	Vincenzo Sorrentino
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-09-04 22:50:42 +02:00 (CEST)
Date last edited	N/A

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