Phenotype #0000163535

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215083
Associated disease	MMD
Phenotype details	CPK max 6761; 32y-lost ability to walk (HP:0006957), lower limbs and grip weakness
Diagnosis/Initial	Myoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	-
Age/Diagnosis	34y
Age/Onset	14y
Phenotype/Onset	lower limbs and grip 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 18:50:37 +02:00 (CEST)

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