Global Variome shared LOVD

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Phenotype #0000085865 Individual ID 00108271 Associated disease LGMD Phenotype details asymmetric muscle weakness; CPK 830, not wheelchair bound Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 43y Phenotype/Onset muscle weakness, difficulty climbing stairs Protein IHC CAV3 near negative; nNOS negative, DAG1 strongly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2006-11-12 17:11:53 +01:00 (CET) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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