Phenotype #0000343207

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454552
Associated disease	MD
Phenotype details	Walking fatigue; positive Gowers' sign; hypertrophy gastrocnemius; limb muscle force -4; 10m walk 4.35 sec; elevated serum CK level (6877 U/L); ECG normal; no family history
Diagnosis/Initial	IMD
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	4y11m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-13 17:19:08 +02:00 (CEST)
Date last edited	N/A

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