Global Variome shared LOVD
SMOC2 (SPARC related modular calcium binding 2)
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Curator:
Global Variome, with Curator vacancy
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Phenotype #0000085935
Individual ID
00108341
Associated disease
LGMD
Phenotype details
cardiomyopathy, dilated/dystrophy, muscular, limb-girdle; exercise-indiced myalgias, premature fatigue, dyspnea, hypotonia, proximal weakness, hypotrophy upper limbs, hypertrophy lower limbs; CPK >1500 IU/l
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
47y
Phenotype/Onset
cardiomyopathy
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2012-04-15 15:58:24 +02:00 (CEST)
Date last edited
N/A
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