Global Variome shared LOVD

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Phenotype #0000288727 Individual ID 00395528 Associated disease LGMD Phenotype details 25y-deceased; initial proximal weakness, calf hypertrophy, no calf atrophystill ambulant, cardiac involvement, pulmonary involvement Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 12y 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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