Phenotype #0000359266

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474473
Associated disease	MD
Phenotype details	33y-wheelchair; creatine kinase level (8000 U/L)
Diagnosis/Initial	Myoshi myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	back pain and lower extremity weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-17 19:02:00 +01:00 (CET)
Date last edited	N/A

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