Global Variome shared LOVD

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Phenotype #0000106232 Individual ID 00133485 Associated disease LGMD Phenotype details no cardiac involvement; no respiratory involvement; no skeletal deformity; >38y-inable to walk (HP:0002540); 26y-1700 elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 14y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-06-27 16:16:38 +02:00 (CEST) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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