Global Variome shared LOVD

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Phenotype #0000163693 Individual ID 00215241 Associated disease LGMD Phenotype details muscle weakness lower extremities distal; no involvement proximal muscles upper limb/shoulder girdle; serum CK 1720 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB dysferlin absent Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-24 21:14:03 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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