Phenotype #0000231487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305640
Associated disease	MD
Phenotype details	Gardner-Medwin and Walton score 4; elevated serum CK 40x; calf atrophy; EMG myopathic
Diagnosis/Initial	Miyoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	-
Protein	IHC DYSF positive
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-01 11:52:35 +02:00 (CEST)
Date last edited	N/A

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