Phenotype #0000163598

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215146
Associated disease	MMD
Phenotype details	CPK max 2850, lower limbs weakness
Diagnosis/Initial	Myoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	-
Age/Diagnosis	57y
Age/Onset	16y
Phenotype/Onset	lower limbs weakness
Protein	-
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-24 21:14:02 +02:00 (CEST)
Date last edited	2020-05-02 18:46:45 +02:00 (CEST)

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