Phenotype #0000043167

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00056479
Associated disease	LGMD2
Inheritance	Isolated (sporadic)
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	mild exercise intolerance
Phenotype details	no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings; CPK 3,000 max U/l; max motor ability run
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-07-23 22:58:32 +02:00 (CEST)
Date last edited	N/A

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