Global Variome shared LOVD
TSPAN12 (tetraspanin 12)
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Curator:
Carmel Toomes
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Phenotype #0000085990
Individual ID
00108396
Associated disease
RMD2
Phenotype details
cramps, stiffness legs, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, slight muscle rippling, no muscle hypertrophy calf; CPK 127
Diagnosis/Initial
-
Inheritance
Familial
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
12y
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2003-01-18 17:03:34 +01:00 (CET)
Date last edited
2012-03-04 15:56:03 +01:00 (CET)
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