Phenotype #0000085863

Individual ID 00108269
Associated disease LGMD
Phenotype details died >6y;>33y; CPK 3430;1700, age onset 3y;?
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC CAV3 near absent, DYSF reduced, normal for DMD, SGC, LAMA2
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 2006-03-10 18:49:15 +01:00 (CET)
Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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