Phenotype #0000231687

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305841
Associated disease	LGMD
Phenotype details	moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; myalgia; scapular winging; elevated serum CK (max. 4443 IU/L); biopsy dystrophic; lobulated fiber; inflammation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	LGMDR1
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	14y
Phenotype/Onset	-
Protein	IHC DMD absent/reduced, SGC 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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