Phenotype #0000153617

Individual ID	00205436
Associated disease	LGMD1
Phenotype details	proximal predominant weakness arms/legs, Gowers sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles; elevated serum creatine phosphokinase (HP:0003236) 632; still walking >56y
Diagnosis/Initial	limb-girdle muscular dystrophy, autosomal dominant
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	LGMD-1E
Age/Examination	-
Age/Diagnosis	-
Age/Onset	33y
Phenotype/Onset	difficulty climbing stairs
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-04-02 22:51:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD