Phenotype #0000085841

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00108247
Associated disease	LGMD
Phenotype details	limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features, biopsy normal; CPK 1340
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<6y
Phenotype/Onset	tip toe walking
Protein	IHC/WB CAV3 absent
Owner name	Ottie O'Brien
Database submission license	No license selected
Created by	Ottie O'Brien
Date created	2006-04-11 18:00:33 +02:00 (CEST)
Date last edited	2019-08-02 19:40:52 +02:00 (CEST)

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