Phenotype #0000343202

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454547
Associated disease	MD
Phenotype details	Misdiagnosed as DMD; positive Gowers' sign; no hypertrophy gastrocnemius; limb muscle force 5; 10m walk 5.9 sec; elevated serum CK level (292 U/L); no family history
Diagnosis/Initial	BMD/DMD
Inheritance	Unknown
Diagnosis/Definite	SMA
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y
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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