Global Variome shared LOVD

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Phenotype #0000288709 Individual ID 00395510 Associated disease LGMD Phenotype details initial proximal weakness, no calf hypertrophy, no calf atrophystill ambulant, no cardiac involvement, no pulmonary involvement, 17y-CK level 5403 IU/L Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-06 20:03:57 +01:00 (CET) Date last edited N/A

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