Global Variome shared LOVD

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Phenotype #0000238111 Individual ID 00313788 Associated disease LGMD Phenotype details proximal muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 7910 U/L; 24y-loss ambulation; no cardiac involvement Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-06 09:30:34 +02:00 (CEST) Date last edited N/A

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