Phenotype #0000344070

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00455516
Associated disease	MD
Phenotype details	elevated CK level (39.5x), EMG myopathic
Diagnosis/Initial	Miyoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC no DYSF
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-11 17:12:29 +02:00 (CEST)
Date last edited	N/A

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