Phenotype #0000204027

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00266251
Associated disease	MYOP
Diagnosis/Initial	unusual hereditary inclusion-body myopathy
Diagnosis/Definite	-
Phenotype details	see paper; ..., progressive muscle weakness, vacuolar myopathy, myositis without quadriceps-sparing
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-18 01:18:47 +02:00 (CEST)
Date last edited	N/A

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