Phenotype #0000166416

Individual ID	00217966
Associated disease	CCD
Phenotype details	Severe generalized muscle weakness; ventilatory assistance; ptosis; facial diplegia; kyphoscoliosis; joint contractures; CPK elevated slightly; not walking
Diagnosis/Initial	central core disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CCD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	Hypotony; amyotrophy; delayed motor milestones
Protein	-
Owner name	Jorge Oliveira
Database submission license
Created by	Johan den Dunnen
Date created	2011-05-18 11:57:19 +02:00 (CEST)
Date last edited	2012-03-09 18:27:00 +01:00 (CET)

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