Global Variome shared LOVD

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Phenotype #0000162558 Individual ID 00214106 Associated disease LGMD Phenotype details proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 3100 U/L; no cardiac involvement Diagnosis/Initial limb-girdle muscular dystrophy, Becker muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Protein WB CAPN3 severely reduced Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:04:09 +02:00 (CEST) Date last edited 2020-10-06 14:23:58 +02:00 (CEST)

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