Phenotype #0000094249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00122453
Associated disease	BMD
Phenotype details	elementary school nocturnal muscle cramping; 28y-unable to walk stairs carrying supplies; progressive weakness, walked with assistive devices; 67y-profound limb-girdle weakness; loss ability to walk (HP:0006957) 7y
Diagnosis/Initial	dystrophy, muscular, Becker type (BMD)
Inheritance	Familial, X-linked
Diagnosis/Definite	BMD
Age/Examination	67y (67 years)
Age/Onset	20y
Phenotype/Onset	weakness running
Age/Diagnosis	-
Protein	IHC DMD reduced, absent ex01 antibody; WB 10%, reduced size
Owner name	Kevin Flanigan
Database submission license
Created by	Johan den Dunnen
Date created	2003-01-21 16:43:48 +01:00 (CET)
Date last edited	2012-03-04 15:56:19 +01:00 (CET)