Phenotype #0000362706

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00478105
Associated disease	LGMD
Phenotype details	see paper; ..., 46y-lost ambulation, no scapular winging; elevated creatine kinase level (560 U/L)
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR1
Age/Examination	46y (46 years)
Age/Diagnosis	-
Age/Onset	9y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-04-29 11:53:10 +02:00 (CEST)
Date last edited	N/A

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