Phenotype #0000058635

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00078876
Associated disease	LGMD
Phenotype details	muscle biopsy shows evidence of end stage muscle features; raised CPK (HP:0003236) moderately elevated
Diagnosis/Initial	LGMD
Inheritance	Familial
Diagnosis/Definite	LGMD2I
Age/Examination	-
Age/Diagnosis	-
Age/Onset	09y
Phenotype/Onset	-
Protein	-
Owner name	Jaya Punetha
Database submission license	No license selected
Created by	Jaya Punetha
Date created	2015-12-10 18:15:25 +01:00 (CET)
Date last edited	2020-02-23 11:15:17 +01:00 (CET)

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