Phenotype #0000231612

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305766
Associated disease	LGMD
Phenotype details	mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; distal weakness; myalgia; elevated serum CK (max. 2202 IU/L); biopsy dystrophic; non-rimmed vacuole; inflammation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	LGMDR2
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	-
Protein	IHC DYSF absent/reduced
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-02 12:45:49 +02:00 (CEST)
Date last edited	N/A

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