Phenotype #0000164208

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215756
Associated disease	MMD
Phenotype details	CPK elevated (HP:0003236) 16400, hyper CKemia, exercise-induced fatigue
Diagnosis/Initial	Myoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	hyperCKemia
Age/Examination	-
Age/Diagnosis	26y
Age/Onset	16y
Phenotype/Onset	hyper CKemia
Protein	IHC DYSF reduced
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2012-01-03 10:37:10 +01:00 (CET)
Date last edited	2020-05-02 19:06:37 +02:00 (CEST)

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