Global Variome shared LOVD

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Phenotype #0000162731 Individual ID 00214279 Associated disease LGMD Phenotype details contractures, scapular winging, ECG normal, echocardiography normal; CPK elevated (HP:0003236) 4341; FVC 1.01 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 16y Phenotype/Onset first symptoms lower limbs Protein WB all CAPN3 slightly reduced Owner name Lab Müller-Reible Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:05:58 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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