Phenotype #0000288708

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395509
Associated disease	LGMD
Phenotype details	initial proximal weakness, 42y-loss of ambulation, no cardiac involvement, no pulmonary involvement, 48y-CK level 707 IU/L
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	54y (54 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-06 20:03:57 +01:00 (CET)
Date last edited	N/A

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