Phenotype #0000359249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474456
Associated disease	MD
Phenotype details	25y-wheelchair; creatine kinase level (9500 U/L); marked intrafamilial variability
Diagnosis/Initial	proximodistal muscle weakness
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR2
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	proximal muscle weakness and backache
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-17 19:02:00 +01:00 (CET)
Date last edited	N/A

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