Global Variome shared LOVD

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Phenotype #0000139594 Individual ID 00174767 Associated disease LGMD Phenotype details onset overt symptoms adulthood; CPK raised 1.9x; progressive limb-girdle weakness; generalized muscle atrophy; scapular winging, mild distal upper limb weakness; waddling gait with knee hyperextension Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset - 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 2018-08-10 19:10:48 +02:00 (CEST) Date last edited N/A

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