Phenotype #0000343739

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455147
Associated disease	LGMD2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	limb-girdle muscular dystrophy
Age/Examination	28y (28 years)
Diagnosis/Definite	LGMDR12
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	see paper; ..., mild dystrophic pattern; muscle weakness shoulder and pelvic-femoral girdles
Protein	normal IHC
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-01 20:00:32 +02:00 (CEST)
Date last edited	N/A

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