Phenotype #0000231696

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305850
Associated disease	LGMD
Phenotype details	severe (MRC grade <3/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); elevated serum CK (max. 14000 IU/L); biopsy dystrophic; inflammation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	LGMDR2
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	-
Protein	IHC DMD absent/reduced, 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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