Global Variome shared LOVD

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Phenotype #0000085839 Individual ID 00108245 Associated disease LGMD Phenotype details intrafamilial phenotypic heterogeneity, hCK/limb-girdle muscular dystrophy/RMD Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein CAV3 heart 60%, CAV IHC strongly reduced / WB absent 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 2019-08-02 19:40:52 +02:00 (CEST)

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