Global Variome shared LOVD

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Phenotype #0000231514 Individual ID 00305667 Associated disease MD Phenotype details Gardner-Medwin and Walton score 5; elevated serum CK 35x; calf atrophy Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein IHC DYSF positive Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-01 11:52:35 +02:00 (CEST) Date last edited N/A

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