Phenotype #0000334610

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00445374
Associated disease	LGMD2
Phenotype details	see paper; ..., 3y-difficulty in climbing stairs/walking without aid; proximal/lower limb muscle weakness, especially calf muscle; high serum creatine kinase levels (324 U/L)
Diagnosis/Initial	limb-girdle muscular dystrophy
Diagnosis/Definite	LGMDR26
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-10 22:32:05 +01:00 (CET)
Date last edited	N/A

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