Phenotype #0000203563

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265777
Associated disease	MYOP
Phenotype details	adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-05 14:18:41 +02:00 (CEST)
Date last edited	N/A

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