Global Variome shared LOVD

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Phenotype #0000238184 Individual ID 00313861 Associated disease LGMD Phenotype details proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 7634 U/L; 7y-loss ambulation; no cardiac involvement Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2E Age/Examination - Age/Diagnosis - Age/Onset 4y 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 13:23:08 +02:00 (CEST) Date last edited N/A

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