Phenotype #0000058626

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00078867
Associated disease	LGMD
Phenotype details	lower limbs affected, atrophy quadriceps, muscle weakness quadriceps; calf pseudo hypertrophy, cramps, myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 16x; >45y walking (-HP:0006957)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	28y
Phenotype/Onset	fatigability, cramps
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-11-16 15:05:13 +01:00 (CET)
Date last edited	N/A

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