Phenotype #0000231588

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00305742
Associated disease	LGMD
Phenotype details	moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; myalgia; elevated serum CK (max. 4000 IU/L); biopsy myopathic; inflammation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	21y
Phenotype/Onset	-
Protein	IHC DYSF 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.