Phenotype #0000166214

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00217764
Associated disease	CCD
Phenotype details	Cores in muscle biopsy; delayed motor skills; proximal muscle weakness
Diagnosis/Initial	central core disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CCD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	Floppy infant; respiratory insuficiency; poor sucking
Protein	-
Owner name	Jorge Oliveira
Database submission license
Created by	Johan den Dunnen
Date created	2010-02-11 11:53:35 +01:00 (CET)
Date last edited	2012-03-09 18:27:00 +01:00 (CET)

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