Phenotype #0000086887

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00109414
Associated disease	MDC
Phenotype details	histopathology showed fiber type disproportion; CPK normal
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC mildly reduced COLVI staining
Owner name	Jaya Punetha
Database submission license	No license selected
Created by	Jaya Punetha
Date created	2014-04-17 23:57:09 +02:00 (CEST)
Date last edited	2020-02-23 11:05:06 +01:00 (CET)

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