Global Variome shared LOVD

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Phenotype #0000288726 Individual ID 00395527 Associated disease LGMD Phenotype details initial proximal weakness, calf hypertrophy, no calf atrophy, 38y-loss of ambulation, cardiac involvement, pulmonary involvement, 38y-CK level 3 K IU/L Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 10y 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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