Phenotype #0000172139

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228209
Associated disease	LGMD
Phenotype details	muscle weakness lower extrimities proximodistal; involvement proximal muscles upper limb/shoulder girdle in disease course; serum CK 1291; 74y-lost ambulation; caridac involvement
Diagnosis/Initial	LGMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2L
Age/Examination	72y (72 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	no muscle available
Owner name	Ieke Ginjaar
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-20 15:19:47 +01:00 (CET)
Date last edited	2020-10-04 11:04:50 +02:00 (CEST)

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