Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000106239 Individual ID 00133492 Associated disease LGMD Phenotype details proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 2070 U/L; 14y-loss ambulation; no cardiac involvement Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2D 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 2009-09-27 22:43:17 +02:00 (CEST) Date last edited 2020-10-06 12:09:02 +02:00 (CEST)

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