Phenotype #0000353057

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467905
Associated disease	LGMD
Phenotype details	proximal muscle weakness; calf hypertrophy; no cardiac involvement; still ambulant; elevated serum creatine kinase level (20x); EMG myogenic
Diagnosis/Initial	limb-girdle muscualr dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR3
Age/Examination	-
Age/Diagnosis	14y
Age/Onset	8y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-03 15:52:38 +01:00 (CET)
Date last edited	N/A

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