Phenotype #0000153622

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00205441
Associated disease	MYOP
Phenotype details	distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness; 62y-motorized wheelchair; still walking >66y
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	initially developed tripping, then difficulty opening jars
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

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