Phenotype #0000163811

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215359
Associated disease	myalgia
Phenotype details	symptomatic carrier; calf myalgias, mild walking difficulty, distal weakness, asymmatric calf hypertrphy; CPK elevated (HP:0003236) 600-800
Diagnosis/Initial	myalgia
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	65y
Phenotype/Onset	progressive difficulty walking, myalgias
Protein	WB and IHC DYSF reduced
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-24 21:14:03 +02:00 (CEST)
Date last edited	2012-03-09 19:03:40 +01:00 (CET)

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