Phenotype #0000343733

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455141
Associated disease	LGMD2
Phenotype details	see paper; ..., 1st muscle weakness pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles; still ambulant; no contractures ; serum CK level 68 ukat/l
Diagnosis/Initial	limb-girdle muscular dystrophy
Diagnosis/Definite	LGMDR3
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 years)
Age/Onset	6y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
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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