Phenotype #0000359551

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474758
Associated disease	LGMDR1;LGMD2A
Phenotype details	Elevated circulating creatine kinase concentration(HP:0003236), Proximal muscle weakness(HP:0003701), Difficulty climbing stairs(HP:0003551), Generalized muscle weakness(HP:0003324)
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR1
Age/Examination	-
Age/Diagnosis	41y
Age/Onset	35y
Phenotype/Onset	generalized muscle weakness (HP:0003324)
Protein	-
Owner name	Gaoyuan Li
Database submission license
Created by	Gaoyuan Li
Date created	2026-03-25 03:49:50 +01:00 (CET)
Date last edited	2026-03-27 18:14:48 +01:00 (CET)

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