Global Variome shared LOVD

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Phenotype #0000106728 Individual ID 00133979 Associated disease LGMD Phenotype details proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 510 U/L; 13y-loss ambulation; no cardiac involvement Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2C Age/Examination - Age/Diagnosis - Age/Onset 07y Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license No license selected Created by Ieke Ginjaar Date created 2009-09-30 21:57:12 +02:00 (CEST) Date last edited 2020-10-04 12:54:21 +02:00 (CEST)

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