Global Variome shared LOVD

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Phenotype #0000162073 Individual ID 00213620 Associated disease LGMD Phenotype details progressive muscle weakness, difficulties in lifting weights, scapular winging and waddling gait; CPK 400; no intellectual disability Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2H Age/Examination - Age/Diagnosis 50y Age/Onset 30y Phenotype/Onset - Protein - Owner name Juliette Nectoux Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-08-21 12:38:37 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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