Phenotype #0000119327

Individual ID 00146627
Associated disease LGMD2
Phenotype details -
Diagnosis/Initial dystrophy, muscular, limb-girdle, autosomal recessive
Diagnosis/Definite LGMD-2I
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Protein IHC DMD/LAMA2 normal, SGCs, sarcospan, UTRN, DYSF, CAV3, DTN, colIV/VI, betaDAG1, alphaDAG1 reduced; WB 300 kDa reduced/80 kDa near absent
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-31 17:44:39 +02:00 (CEST)
Date last edited 2012-03-10 10:32:38 +01:00 (CET)

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