Global Variome shared LOVD

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Phenotype #0000106736 Individual ID 00133987 Associated disease LGMD Phenotype details proximodistal muscle weakness lower extremity; serum CK 560 U/L; 10y-loss ambulation; 35y-invasive ventilation Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2C Age/Examination - Age/Diagnosis - Age/Onset 08y Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license No license selected Created by Ieke Ginjaar Date created 2007-07-13 16:38:45 +02:00 (CEST) Date last edited 2020-10-04 13:09:26 +02:00 (CEST)

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