Global Variome shared LOVD

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Phenotype #0000288725 Individual ID 00395526 Associated disease LGMD Phenotype details initial proximal weakness, calf hypertrophy, no calf atrophy, 12y-loss of ambulation, cardiac involvement, pulmonary involvement, 3y-CK level > 10 K IU/L Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 2y 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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