Global Variome shared LOVD

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Phenotype #0000139590 Individual ID 00174763 Associated disease LGMD Phenotype details onset overt symptoms childhood; CPK raised 2x; massive contractures, generalized muscle atrophy; loss of ambulation in 3rd decade; Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - 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 2018-08-10 19:10:48 +02:00 (CEST) Date last edited N/A

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